muscle hypotonia

Summary

Summary: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.

Top Publications

  1. ncbi Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia
    Manuel Roig
    Secció de Neurologia Infantil, Hospital Universitari Vail d Hebron, Barcelona, Spain
    Dev Med Child Neurol 45:489-93. 2003
  2. pmc West Nile virus-associated flaccid paralysis
    James J Sejvar
    Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Emerg Infect Dis 11:1021-7. 2005
  3. ncbi A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)
    P Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Clin Genet 79:183-8. 2011
  4. ncbi Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling
    D Hanson
    Paediatric Endocrinology, School of Biomedicine, Manchester Academic Health Sciences Centre, University of Manchester, Manchester M13 9WL, UK
    J Mol Endocrinol 49:267-75. 2012
  5. ncbi Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice
    Kati Takaluoma
    Collagen Research Unit, University of Oulu, FIN 90014, Finland
    J Biol Chem 282:6588-96. 2007
  6. ncbi A poliomyelitis-like syndrome from West Nile virus infection
    A Arturo Leis
    N Engl J Med 347:1279-80. 2002
  7. ncbi The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients
    Manuela Galli
    Bioeng Dept, Politecnico di Milano, P zza Leonardo da Vinci 32, 20133 Milano, Italy
    Res Dev Disabil 32:1117-21. 2011
  8. ncbi Neurologic manifestations and outcome of West Nile virus infection
    James J Sejvar
    Division of Viral and Rickettsial Diseases, National Center for Infectious Diseases, and Epidemic Intelligence Service, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    JAMA 290:511-5. 2003
  9. ncbi West Nile virus infection presenting as acute flaccid paralysis in an HIV-infected patient: a case report and review of the literature
    Mauro Torno
    Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, CA, USA
    Neurology 68:E5-7. 2007
  10. ncbi A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia
    Radek Szklarczyk
    Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen 6500HB, The Netherlands
    Hum Mol Genet 22:656-67. 2013

Research Grants

Detail Information

Publications243 found, 100 shown here

  1. ncbi Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia
    Manuel Roig
    Secció de Neurologia Infantil, Hospital Universitari Vail d Hebron, Barcelona, Spain
    Dev Med Child Neurol 45:489-93. 2003
    ..Intelligence or developmental quotients are within the normal range for their age. Facial hypomimia, feeding, and speech articulatory performance difficulties are the main disabilities observed in these patients at follow-up...
  2. pmc West Nile virus-associated flaccid paralysis
    James J Sejvar
    Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Emerg Infect Dis 11:1021-7. 2005
    ..A poliomyelitislike syndrome likely involving spinal anterior horn cells is the most common mechanism of WNV-associated paralysis and is associated with significant short- and long-term illness and death...
  3. ncbi A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)
    P Rump
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Clin Genet 79:183-8. 2011
    ..G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases...
  4. ncbi Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling
    D Hanson
    Paediatric Endocrinology, School of Biomedicine, Manchester Academic Health Sciences Centre, University of Manchester, Manchester M13 9WL, UK
    J Mol Endocrinol 49:267-75. 2012
    ..Dysregulation of the GH-IGF-IGF binding protein axis is a feature of 3-M syndrome...
  5. ncbi Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice
    Kati Takaluoma
    Collagen Research Unit, University of Oulu, FIN 90014, Finland
    J Biol Chem 282:6588-96. 2007
    ....
  6. ncbi A poliomyelitis-like syndrome from West Nile virus infection
    A Arturo Leis
    N Engl J Med 347:1279-80. 2002
  7. ncbi The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients
    Manuela Galli
    Bioeng Dept, Politecnico di Milano, P zza Leonardo da Vinci 32, 20133 Milano, Italy
    Res Dev Disabil 32:1117-21. 2011
    ..The results demonstrated that both PWS and EDS are characterized by a severe postural instability. Muscle hypotonia and weakness may account for reduced balance capacity...
  8. ncbi Neurologic manifestations and outcome of West Nile virus infection
    James J Sejvar
    Division of Viral and Rickettsial Diseases, National Center for Infectious Diseases, and Epidemic Intelligence Service, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
    JAMA 290:511-5. 2003
    ..The neurologic manifestations, laboratory findings, and outcome of patients with West Nile virus (WNV) infection have not been prospectively characterized...
  9. ncbi West Nile virus infection presenting as acute flaccid paralysis in an HIV-infected patient: a case report and review of the literature
    Mauro Torno
    Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, CA, USA
    Neurology 68:E5-7. 2007
    ..We then review the medical literature on WNV infection occurring among patients who are infected with HIV. Unlike most of the cases reported in the literature, our patient had partial recovery of his neurologic deficits...
  10. ncbi A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia
    Radek Szklarczyk
    Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen 6500HB, The Netherlands
    Hum Mol Genet 22:656-67. 2013
    ..In this report, we describe a homozygous missense mutation in FAM36A from a patient who displays ataxia and muscle hypotonia. The FAM36A gene is a remote, putative ortholog of the fungal complex IV assembly factor COX20...
  11. ncbi Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
    Nadia A Akawi
    Faculty of Medicine and Health Sciences, Department of Pathology, United Arab Emirates University, Al Ain, United Arab Emirates
    Am J Med Genet A 155:1236-45. 2011
    ..As a result of these findings, we question the identity of the autosomal recessive SRS and suggest that all apparently recessive SRS families should be tested for mutations in CUL7 and OBSL1...
  12. ncbi A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
    Hiba Risheg
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Nat Genet 39:451-3. 2007
    ....
  13. ncbi Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions
    Ruti Parvari
    Department of Developmental Genetics and Virology and the National Institute of Biotechnology Negev, Ben Gurion University of the Negev, PO Box 653, Beer Sheva 84105, Israel
    Eur J Hum Genet 15:997-8. 2007
  14. pmc Using the two-source capture-recapture method to estimate the incidence of acute flaccid paralysis in Victoria, Australia
    Kathryn Whitfield
    Department of Human Services, Victorian Public Health Training Scheme, Melbourne, Australia
    Bull World Health Organ 80:846-51. 2002
    ..To estimate the incidence and the completeness of ascertainment of acute flaccid paralysis (AFP) in Victoria, Australia, in 1998-2000 and to determine its common causes among children aged under 15 years...
  15. ncbi Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
    S M Tanner
    Department of Clinical Research, Human Molecular Genetics, University of Berne, Switzerland
    Hum Mutat 11:62-8. 1998
    ..Moreover, pedigree analyses provide first information on de novo mutation frequency in this newly identified human disease gene...
  16. ncbi Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
    Boris Utsch
    Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, USA
    Pediatr Nephrol 21:32-5. 2006
    ..One patient had the association of JBTS and NPHP with chronic renal failure. This is the first report of AHI1 mutations causing JBTS associated with NPHP, confirming the clinical and genetic heterogeneity of NPHP...
  17. ncbi Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features
    Mehryar Taban
    Department of Pediatric Ophthalmology and the Center for Genetic Eye Diseases, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    J AAPOS 11:431-7. 2007
    ..To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases...
  18. ncbi Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)
    Uluc Yis
    Division of Child Neurology, Dokuz Eylul University School of Medicine, Department of Pediatrics, 35340 Izmir, Turkey
    Neuromuscul Disord 18:210-4. 2008
    ..We advocate the analysis of urinary pyridinolines in all infants with severe hypotonia which is highly specific and sensitive, quick and inexpensive...
  19. ncbi A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM U LP, B P 163, C U de Strasbourg, France
    Nat Genet 13:175-82. 1996
    ..At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man...
  20. ncbi Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome
    B Chabrol
    Reference Center for inborn metabolic disorders, CHU de Timone, Marseille, France
    J Med Genet 45:314-8. 2008
    ..The deletions differ in size and the number of genes involved. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost...
  21. pmc Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
    Dan Hanson
    Department of Endocrinology, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, UK
    Am J Hum Genet 89:148-53. 2011
    ..We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth...
  22. ncbi Poliomyelitis due to West Nile virus
    Jonathan D Glass
    N Engl J Med 347:1280-1. 2002
  23. ncbi Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)
    Cecilia Giunta
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Am J Med Genet A 133:158-64. 2005
    ....
  24. ncbi X-linked myotubular myopathy and chylothorax
    Koenraad Smets
    Department of Neonatology, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Neuromuscul Disord 18:183-4. 2008
    ..As chylothorax could not be attributed to any evident condition in this child, perhaps it may be added to the clinical spectrum of X-linked myotubular myopathy...
  25. ncbi Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
    B M de Gouyon
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 6:1499-504. 1997
    ..The low frequency of large deletions and the varied mutations identified suggest that direct mutation screening for molecular diagnosis may require gene sequencing...
  26. ncbi [Poliomyelitis eradication in Poland--assessment of the program implementation]
    Magdalena Rosinska
    Zakład Epidemiologii Państwowego Zakładu Higieny ul Chocimska 24 00 791 Warszawa
    Przegl Epidemiol 58:185-96. 2004
    ..The quality of surveillance however is uneven on the sub-national level. Consequently, imported polio cases might be detected with delay. Continuation of enhanced AFP surveillance in Poland is warranted...
  27. ncbi Terminal 2q37 deletion and autistic behaviour
    T Lukusa
    Genet Couns 16:179-80. 2005
  28. ncbi Cohen syndrome in the Ohio Amish
    Marni J Falk
    Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA
    Am J Med Genet A 128:23-8. 2004
    ....
  29. ncbi Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up
    Heval M Ozgen
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 134:215-9. 2005
    ..We provide a short review of this probably autosomal recessively inherited disorder. (c) 2005 Wiley-Liss, Inc...
  30. ncbi [Neuroradiological aspects of Joubert syndrome: an analysis of two cases]
    E S Il'ina
    Zh Nevrol Psikhiatr Im S S Korsakova 105:59-61. 2005
  31. ncbi Brain stem and cerebellar findings in Joubert syndrome
    Ibrahim A Alorainy
    Department of Radiology and Medical Imaging, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
    J Comput Assist Tomogr 30:116-21. 2006
    ..Awareness of the clinical and neuroimaging findings in Joubert syndrome and maintenance of a high index of suspicion are essential to correctly diagnose this rare congenital malformation...
  32. ncbi A report of three patients with an interstitial deletion of chromosome 15q24
    Lisa J Cushman
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, USA
    Am J Med Genet A 137:65-71. 2005
    ..Furthermore, we suggest that FISH analysis with a probe for the PML gene be performed in patients with these physical findings...
  33. ncbi Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome
    Eleftheria Papadopoulou
    Department of Pediatrics, University Hospital of Heraklion, University of Crete, Crete, Greece
    Am J Med Genet A 146:2545-50. 2008
    ..Antenatal and postnatal MRI findings suggest that our patient's PVL represents an unusual congenital feature of AOS, possibly due to vascular disruption and decreased perfusion during critical periods of fetal brain development...
  34. ncbi Joubert syndrome co-existing with partial Xp trisomy: review of the literature
    G S Guven
    Department of Medical Biology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
    Genet Couns 15:321-8. 2004
    ..Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband...
  35. ncbi Further delineation of the 22q13 deletion syndrome
    S G Lindquist
    The John F Kennedy Institute, Glostrup, Denmark
    Clin Dysmorphol 14:55-60. 2005
    ..The deletions varied in size, extending from 4.0 to 9.0 Mb. The clinical phenotype seemed rather similar although some specific features might be attributable to differences in deletions...
  36. ncbi A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
    Eur J Hum Genet 12:797-804. 2004
    ..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome...
  37. ncbi A new case of Okamoto syndrome
    Robert Wallerstein
    Genetics Service, Joseph M Sanzari Children s Hospital, Hackensack University Medical Center, Hackensack, New Jersey, USA
    Clin Dysmorphol 14:85-7. 2005
    ..Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases...
  38. ncbi [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis]
    S Strenge
    Klin Padiatr 220:318-20. 2008
    ..We present the clinical phenotype of the 22q13 deletion syndrome - also known as Phelan-McDermid syndrome - and show the diagnostic options...
  39. pmc Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
    Farah Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
    J Med Genet 44:556-61. 2007
    ..All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies...
  40. ncbi Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals
    Kari A Casas
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
    Am J Med Genet A 130:331-9. 2004
    ..Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling...
  41. ncbi Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting
    Dieter Kotzot
    Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Schoepfstr 41, A 6020 Innsbruck, Austria
    Ann Genet 47:251-60. 2004
    ..Totally, the variable phenotype of upd(14)mat is mainly the consequence of trisomy mosaicism and genomic imprinting. Rare traits might be due to homozygosity of autosomal recessively inherited mutations...
  42. ncbi Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature
    Meng Luen Lee
    Int J Cardiol 96:477-80. 2004
  43. ncbi Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
    David A Koolen
    1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 13:1019-24. 2005
    ....
  44. ncbi Long-term neuromotor outcome at school entry of infants with congenital heart defects requiring open-heart surgery
    Annette Majnemer
    School of Physical and Occupational Therapy, Department of Neurology and Neurosurgery, McGill University, Toronto, Ontario, Canada
    J Pediatr 148:72-7. 2006
    ..This prospective study was conducted to investigate whether or not neuromotor impairments evident acutely persist long-term...
  45. ncbi Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome
    Elke Wühl
    Department of Pediatric Nephrology, University Children s Hospital, Heidelberg, Germany
    Am J Med Genet A 143:311-9. 2007
    ..This is an important issue in the counseling of parents of an affected newborn or infant...
  46. ncbi Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years
    Ulrike Gamerdinger
    Institute of Pathology, University Medical Centre of Giessen and Marburg, Giessen, Germany
    Am J Med Genet A 146:1180-4. 2008
    ..By analyses with FISH and short tandem repeat markers, the interstitial deletion was confirmed and characterized to span 9q31.2q33.1, comprising at least 7.07 Mb. The aberration is of paternal origin...
  47. ncbi Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family
    Lihadh Al-Gazali
    Department of Paediatrics, Faculty of Medicine and Health Sciences, Al Ain, UAE
    Clin Dysmorphol 16:105-7. 2007
    ..Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome...
  48. ncbi Approaches to neurodevelopmental assessment in congenital diaphragmatic hernia survivors
    Catherine Chen
    Department of Surgery, Children s Hospital, Boston, MA 02115, USA
    J Pediatr Surg 42:1052-6; discussion 1056. 2007
    ....
  49. ncbi Genitourinary anomalies of pediatric FG syndrome
    James F Smith
    Division of Urology, University of Utah, Salt Lake City, Utah, USA
    J Urol 178:656-9. 2007
    ..This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations...
  50. ncbi Filamin A mutation is one cause of FG syndrome
    Sheila Unger
    Institute for Human Genetics, University of Freiburg, Freiburg, Germany
    Am J Med Genet A 143:1876-9. 2007
    ..Filamin A studies in other children with FG syndrome would help to confirm this association...
  51. ncbi Joubert syndrome: a major brain malformation
    Jaydeb Ray
    Department of Paediatrics, The Institute of Child Health, Kolkata
    J Indian Med Assoc 105:392-4. 2007
    ..MRI revealed characteristic "molar tooth" appearance of superior cerebellar peduncles. This case is unusual as it was diagnosed in early infancy...
  52. ncbi Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
    Marc Bitoun
    Institut National de la Sante et de la Recherche Medicale, U582, Institut de Myologie, Paris, France
    Ann Neurol 62:666-70. 2007
    ..Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype...
  53. ncbi Reticulate vascular lesions and a large head
    Marco Castori
    IRCCS C S S San Giovanni Rotondo and C S S Mendel Institute, Rome, Italy
    Pediatr Dermatol 24:555-6. 2007
  54. ncbi Neurological complications of cardio-facio-cutaneous syndrome
    Grace Yoon
    Department of Pediatrics, Division of Medical Genetics, The Hospital for Sick Children, University of Toronto, Canada
    Dev Med Child Neurol 49:894-9. 2007
    ..Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed...
  55. ncbi De novo duplication of chromosome 13(q32-q34) in a child with developmental delay
    Donatella Milani
    Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy
    J Child Neurol 21:1084-5. 2006
    ..This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition...
  56. ncbi Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred
    Miriam Kutai
    Neuropediatric Clinic, Ha Emek Medical Center, Afula, Israel
    Pediatr Neurol 35:425-9. 2006
    ..Laboratory evaluation including muscle biopsies, genetic studies, and metabolic evaluation was nondiagnostic...
  57. ncbi Phenylketonuria in pediatric neurology practice: a series of 146 cases
    Kalbiye Yalaz
    Hacettepe University, Ankara, Turkey
    J Child Neurol 21:987-90. 2006
    ....
  58. ncbi Allan-Herndon-Dudley syndrome
    Sanjay Verma
    Department of Pediatrics, University College of Medical Science and Guru Teg Bahadur Hospital, Delhi, India
    Indian J Pediatr 75:402-4. 2008
    ..We report a child with classical clinical features along with confirmatory deranged thyroid levels in blood...
  59. ncbi Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome
    Eva Morava
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    Am J Med Genet A 140:752-6. 2006
    ..Neurological deterioration is a commonly observed feature in mitochondrial disorders. Based on the unique combination of the clinical symptoms, we suggest that our patients have the Brooks-Wisniewski-Brown syndrome...
  60. ncbi Non-polio AFP rate and polio eradication
    Paul T Francis
    Indian Pediatr 45:422-3. 2008
  61. ncbi Congenital indifference to pain and deletion of chromosome 10q-: new association
    Charuta Joshi
    Department of Pediatrics, University of Manitoba, Winnipeg, Canada
    J Child Neurol 21:174-7. 2006
    ..Relative indifference to pain defined by a lack of emotional response to pain has not been described previously in association with the terminal deletion of the long arm of chromosome 10...
  62. ncbi [3M syndrome: case history]
    P Fehlow
    Ehem Bezirkskrankenhaus für Psychiatrie und Neurologie, Mühlhausen Thüringen
    Klin Padiatr 218:287-91. 2006
    ..This case report shall draw attention to a still little known syndrome of primordial nanism. It is important for the differential diagnosis on the genetic counselling, specially with regard to the Silver-Russell syndrome...
  63. ncbi Role of EMG in congenital hypotonia with favorable outcome
    Francesco Pisani
    Child Neuropsychiatric Unit, Pediatrics Department, University of Parma, Parma, Italy
    Acta Biomed 76:171-4. 2005
    ....
  64. ncbi Polioviruses and other enteroviruses isolated from faecal samples of patients with acute flaccid paralysis in Australia, 1996-2004
    Heath Kelly
    Epidemiology Unit, Victorian Infectious Diseases Reference Laboratory, Melbourne, Victoria, Australia
    J Paediatr Child Health 42:370-6. 2006
    ..This study aims to review the significance of all enteroviruses, including polioviruses, isolated from patients with AFP in Australia between 1996 and 2004...
  65. ncbi Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly
    Tiziana Pisano
    Division of Child Neurology and Psychiatry, Azienda Ospedaliero Universitaria di Cagliari, Cagliari, Italy
    J Child Neurol 23:916-8. 2008
    ..At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal...
  66. ncbi Neuhauser syndrome and Peters' anomaly
    Coskun Yarar
    Department of Pediatrics, Osmangazi University, Faculty of Medicine, Eskisehir, Turkey
    Clin Dysmorphol 15:249-51. 2006
    ..To the best of our knowledge, Peters' anomaly has not been reported in Neuhauser syndrome previously...
  67. ncbi Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype
    Marielle E M Swinkels
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre of Molecular Life Sciences, Nijmegen, The Netherlands
    Am J Med Genet A 146:1430-8. 2008
    ..Sequence analysis of this gene in nine additional patients with isolated trigonocephaly did not reveal any pathogenic mutations...
  68. ncbi When needs are special
    Ginny Paleg
    University of Maryland, USA
    Rehab Manag 20:24, 26-7. 2007
  69. ncbi Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts
    Sarah E Marsh
    Department of Neurosciences, University of California, San Diego, USA
    J Child Neurol 19:227-31. 2004
    ..Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts...
  70. ncbi [Two cases of Costello syndrome]
    Tatsuo Masuyama
    Department of Pediatrics, Saga Seishigakuen Handicapped Children s Hospital, Saga
    No To Hattatsu 35:49-53. 2003
    ..Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus...
  71. ncbi Potocki-Shaffer syndrome: report of one case
    Wei Hsin Chien
    Department of Pediatrics, Taipei Municipal Ho Ping Hospital, Taipei, Taiwan
    Acta Paediatr Taiwan 44:242-5. 2003
    ..Despite previous negative chromosome study, positive family history with two similarly affected elder siblings and the finding of bilateral parietal foraminae finally lead to the etiologic diagnosis...
  72. ncbi Further delineation of the chromosome 14q terminal deletion syndrome
    Clara D M van Karnebeek
    Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet 110:65-72. 2002
    ....
  73. ncbi Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22
    Paula Summanen
    Department of Ophthalmology, Department of Pediatrics, Helsinki University Central Hospital, Haartmaninkatu 4C, PL 220, FIN 00029 HUS Helsinki, Finland
    Invest Ophthalmol Vis Sci 43:1686-93. 2002
    ..To analyze the mechanisms of myopia in Cohen syndrome (Mendelian Inheritance in Man [MIM] no. 216550)...
  74. ncbi A second family with Micro syndrome
    G RodrIguez Criado
    Unidad de Dismorfología, Infantil Universitario Virgen del Rocio, Sevilla, Spain
    Clin Dysmorphol 8:241-5. 1999
    ..No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome...
  75. ncbi Recognition of the clinical signs and symptoms of Joubert syndrome
    Linda Merritt
    North Texas Hospital for Children at Medical Coty, Dallas, TX 75230, USA
    Adv Neonatal Care 3:178-86; quiz 187-8. 2003
    ..A discussion of the range of developmental outcomes and complex multispecialty care and intensive support that these infants and their families require is also provided...
  76. pmc Poliomyelitis surveillance in Shandong Province, China, 1990-92
    Y Chiba
    Department of EPI, Shandong Provincial Epidemic Prevention Station, Jinan, China
    Bull World Health Organ 72:915-20. 1994
    ..As the prevalence of wild poliovirus declines in China, reliable laboratory support needs to be established and adequately sensitive and specific AFP surveillance be developed if poliomyelitis is to be eradicated...
  77. ncbi Cohen syndrome with insulin resistance and seizure
    Mehmet Emre Atabek
    Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey
    Pediatr Neurol 30:61-3. 2004
    ..We report a patient manifesting the typical characteristics of Cohen syndrome with seizure and hyperinsulinemia...
  78. pmc Poliomyelitis in Oman: acute flaccid paralysis surveillance leading to early detection and rapid response to a type 3 outbreak
    S E Robertson
    Global Programme for Vaccines and Immunization, World Health Organization, Geneva, Switzerland
    Bull World Health Organ 72:907-14. 1994
    ..Because AFP surveillance detected these cases rapidly, Oman was able to carry out outbreak control measures promptly and more than 350,000 extra doses of oral poliovirus vaccine were delivered to children under 6 years of age...
  79. pmc X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
    G S Salomons
    VU Medical Center, Metabolic Unit, Department of Clinical Chemistry, 1081 HV Amsterdam, The Netherlands
    Am J Hum Genet 68:1497-500. 2001
    ..The three female relatives were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28...
  80. ncbi Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family
    Giulio Piluso
    Dipartimento di Patologia Generale, Facolta di Medicina e Chirurgia, Seconda Universita degli Studi di Napoli, Via Luigi De Crecchio 7, 80138 Naples, Italy
    Hum Genet 112:124-30. 2003
    ..66 (recombination fraction=0) for markers between DXS8113 and sWXD805. This new locus for FG syndrome corresponds to a region of approximately 4.6 Mb on the X chromosome...
  81. pmc Developmental coordination disorder: is clumsy motor behavior caused by a lesion of the brain at early age?
    Mijna Hadders-Algra
    Department of Neurology Developmental Neurology, University of Groningen, Groningen, The Netherlands
    Neural Plast 10:39-50. 2003
    ..In line with this idea is the finding that complex MND shows a strong correlation with attention and learning problems...
  82. ncbi Anaesthetic management in a case of Kabuki syndrome
    A I Casado
    Eur J Anaesthesiol 21:162-3. 2004
  83. ncbi [Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers]
    V Smolka
    Detská klinika LF UP a FN, Olomouc
    Cas Lek Cesk 140:732-5. 2001
    ..Serious hematological, metabolic and neurological complications owing to the nutritional deficiency of vitamin B12 may occur in infants of mothers on a strict vegetarian diet...
  84. pmc Gamma-aminobutyric acid-mediated neurotransmission in the pontine reticular formation modulates hypnosis, immobility, and breathing during isoflurane anesthesia
    Giancarlo Vanini
    Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Anesthesiology 109:978-88. 2008
    ....
  85. ncbi [Syncope in children and adolescents]
    Andrzej Rudzinski
    Klinika Kardiologii Dzieciecej, Uniwersytet Jagielloński Collegium Medicum w Krakowie
    Przegl Lek 64:76-9. 2007
    ..Further specialist tests depend on preliminary findings...
  86. ncbi Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome
    L A Réthy
    Department of Paediatrics, Semmelweis University, Budapest, Hungary
    Pathol Oncol Res 6:295-7. 2000
    ..DNA-studies by region specific markers as well as mutational analysis for the most common NPD-mutations are planned in the future. This is the first report on the simultaneous occurrence of BWS and ASM-deficiency...
  87. ncbi [A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]
    P Muller
    HELIOS Krankenhaus Leisnig, Abteilung für Kinder und Jugendmedizin, Leisning
    Klin Padiatr 219:361-7. 2007
    ..Patients present with megaloblastic anemia, failure to thrive and various neurological manifestations including mental retardation, cerebral atrophy, muscular hypotonia or hypertonia, ataxia, seizures, nystagmus and visual disturbances...
  88. pmc Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement
    Oleg A Shchelochkov
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Mol Cytogenet 1:16. 2008
    ..The cell line carrying the deletion of Xp could have then stabilized through self-circularization and formation of the ring X chromosome...
  89. ncbi In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8
    Kirsten E Erger
    Department of Pediatrics, Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, USA
    J Gene Med 9:462-9. 2007
    ..ATR functions within the mitochondria matrix in the final conversion of cobalamin into coenzyme B(12), adenosylcobalamin (AdoCbl). AdoCbl is a required coenzyme for the mitochondrial enzyme methylmalonyl-CoA mutase (MCM)...
  90. ncbi Decentralization of superior cervical ganglia attenuates heat stroke formation in rabbits
    M T Lin
    Department of Physiology, National Cheng Kung University, Medical College, Tainan, Taiwan, Republic of China
    Chin J Physiol 33:247-53. 1990
    ..The data suggest that decentralization of the superior cervical ganglia attenuates formation or development of heat stroke by promoting an increase in cerebral blood flow in rabbits...
  91. ncbi Classical galactosaemia revisited
    Annet M Bosch
    Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre G8 205, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:516-25. 2006
    ..hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract...
  92. ncbi Comparison of short- and long-acting benzodiazepine-receptor agonists with different receptor selectivity on motor coordination and muscle relaxation following thiopental-induced anesthesia in mice
    Mamoru Tanaka
    Division of Pharmacy, Ehime University Hospital, Toon, Ehime, Japan
    J Pharmacol Sci 107:277-84. 2008
    ....
  93. pmc Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    Yong hui Jiang
    Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 9:50. 2008
    ..Taking advantage of the human genome sequence, we have performed extensive sequence analysis and molecular studies for the PWS candidate region...
  94. pmc Centronuclear (myotubular) myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 3:26. 2008
    ..Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis...
  95. ncbi A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
    N M Verhoeven
    Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 28:169-79. 2005
    ..Discovery of this second patient affected with transaldolase deficiency and liver failure suggests that this disorder has a heterogeneous clinical presentation with highly variable severity...
  96. ncbi Congenital hypothyroidism clinical aspects and late consequences
    Atilla Buyukgebiz
    Dokuz Eylül Faculty of Medicine, Department of Pediatric Endocrinology and Adolescence Inciralti, Izmir, Turkiye
    Pediatr Endocrinol Rev 1:185-90; discussion 190. 2003
    ..Still a small number of patients with severe hypothyroidism in utero or reflected by clinical signs and symptoms extremely low T4 levels and delayed bone age may have intellectual deficits despite normal intelligence...
  97. ncbi Regulation of hind-limb tone by adenosine A2A receptor in rats
    Y N Wu
    Institute of Biomedical Engineering, National Cheng Kung University, Tainan, Taiwan
    Neuroscience 159:1408-13. 2009
    ..tone, with some reports indicating an increase, while other data suggest that A2A catalepsy is dominated by muscle hypotonia. We investigated the effect on resistance to imposed movements of systemic cataleptic doses of the selective ..
  98. ncbi [Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome]
    Fanny Cortés M
    Unidad de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Santiago, Chile
    Rev Med Chil 133:33-41. 2005
    ..Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25% to uniparental disomy and 1% to mutations in the imprinting center...
  99. ncbi Osteogenesis imperfecta: determining the demographics and the predictors of death from an inpatient population
    Michael G Vitale
    Pediatric Orthopaedic Surgery, Morgan Stanley Children s Hospital of New York Presbyterian, Columbia University Medical Center, New York, NY, USA
    J Pediatr Orthop 27:228-32. 2007
    ....
  100. ncbi Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome
    Fritz Haverkamp
    University Children s Hospital, Adenauerallee 119, 53113 Bonn, Germany
    Eur J Pediatr 162:30-5. 2003
    ..syndrome (TS), an X-chromosomal anomaly characterised by total or partial loss of the second X-chromosome, muscle hypotonia, and lower proficiency in fine and gross motor skills have been described...
  101. pmc Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue
    Edmar Zanoteli
    Department of Genetics, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Biochim Biophys Acta 1802:659-72. 2010
    ..Osteoskeletal deformities and muscle hypotonia have been described in patients with sialidosis...

Research Grants38

  1. NFAT Signaling and Down Syndrome
    Gerald R Crabtree; Fiscal Year: 2012
    ..We will test this hypothesis and if correct find molecule that correct the balance and thereby develop new treatments for some of the disabling characteristics of Down Syndrome. ..
  2. RNA editing-mediated modulation of serotonin 2C receptor protein expression
    RANDI JO ULBRICHT; Fiscal Year: 2011
    ..Our novel findings have the potential to redefine research, diagnosis and treatment of 5HT2C-related disorders including schizophrenia, depression, anxiety and addiction. ..
  3. CRAC Channel Deficiency in Immunity to Infection
    Stefan Feske; Fiscal Year: 2013
    ..Understanding the role of calcium influx for immune responses is essential to assess the therapeutic potential of CRAC channel inhibition as a treatment for autoimmune and allergic diseases in the future. ..
  4. Neuro-inflammation and treatment in GM2 gangliosidosis
    Stephanos Kyrkanides; Fiscal Year: 2007
    ..With this more of therapy we anticipate a resolution of GM2 storage and neuro-inflammation ultimately leading to amelioration of the clinical phenotype of the disease. ..
  5. MOUSE MODELS TO STUDY MULIBREY NANISM
    Juan Zapata; Fiscal Year: 2005
    ..glands with consequent hormonal deficiency, constrictive pericardium, hepatomegaly, hydrocephaloid skull, muscle hypotonia and susceptibility to develop ovarian and Wilm's tumors...
  6. THE USE OF ELECTROACUPUNCTURE TO MODULATE AROUSAL
    Edgar Garcia Rill; Fiscal Year: 2002
    ..However, the optimal stimulation sites and paradigms muse be identified and proven effective, first, in control populations, and later, in pathological populations. ..
  7. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2005
    ..Elucidation of the genetic defect will help us understand the pathogenesis of this multifaceted disorder and hopefully result in specific therapy. ..
  8. MITOCHONDRIAL DNA ANALYSIS IN CYCLIC VOMITING SYNDROME
    Richard Boles; Fiscal Year: 2002
    ..An extensive amount of clinical and laboratory data will be collected in all patients, allowing for the comparison of CVS sufferers with and without mtDNA mutations. ..
  9. Alzheimer's Disease in Down Syndrome: Antioxidant Trial
    Ira Lott; Fiscal Year: 2005
    ..The pilot trial should also contribute information as to the possible role of antioxidants in the treatment or prevention of AD in the general population. ..
  10. Childhood Motor Impairment and Assisted Communication
    Terence Sanger; Fiscal Year: 2004
    ....
  11. CARDIOVASCULAR CONCOMITANTS OF ULTRASONIC VOCALIZATIONS
    Mark Blumberg; Fiscal Year: 2002
    ..Through these approaches, an integrated view of the varied mechanisms by which infant and adult mammals regulate cardiovascular function during physiological and behavioral challenges will emerge. ..
  12. Web-based Sleep Research Protocols and Standards
    Michael Chase; Fiscal Year: 2004
    ..It will also provide an infrastructure for the development of interactions and linkages between basic and clinical areas of investigation...
  13. Insulin Resistance and ABCA1 Transporter Function
    WILLIAM GARVER; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  14. CNS Sites Mediating Cognition and Mood: Impact of Apnea
    Michael Chase; Fiscal Year: 2008
    ..These studies will therefore provide a foundation for the development of therapeutic treatments for Obstructive Sleep Apnea, including the neurocognitive and mood disorders that occur as a consequence of this pathology. ..
  15. Behavioral state development in infants
    Mark Blumberg; Fiscal Year: 2009
    ..abstract_text> ..
  16. Neurobehavioral Effects of Insecticide Exposure in Pregnancy and Early Childhood
    Kimberly Yolton; Fiscal Year: 2010
    ....
  17. GENE CAUSING PAGET & LIMB-GIRDLE MUSCULAR DYSTROPHY
    Virginia Kimonis; Fiscal Year: 2003
    ..Delineation of the genetic component responsible for the LGMD/PDB phenotype should promise similar insight and facilitate in the design of novel treatment protocols for the two disorders. ..
  18. Genetic basis of myopathy with Paget disease of bone
    Virginia Kimonis; Fiscal Year: 2008
    ..e. effect on ATPase activity, protein-protein interactions, and hexamer formation). Study the VCP specific pathways in C2C12 cell lines (stably transfected wt and R155H VCP) during differentiation and under stress conditions...
  19. Arm Kinematics in Hyperkinetic Cerebral Palsy
    Terence Sanger; Fiscal Year: 2005
    ..Hlatky will guide the design and implementation of clinical trials and outcome measure validation. The proposal includes coursework in cellular and molecular neurobiology and in the design of clinical research studies. ..
  20. Neurotransmitter Control of Sleep and Wakefulness
    Michael Chase; Fiscal Year: 2005
    ..abstract_text> ..
  21. Androgen effect on motor/cognitive outcome in Klinefelter syndrome
    Judith L Ross; Fiscal Year: 2010
    ..If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. ..
  22. Brainstem Regulation of Active Sleep and Wakefulness
    Michael Chase; Fiscal Year: 2007
    ..that these data will be directly applicable to the development of rational therapies for the treatment of sleep and waking disorders that arise as a result of the pathological functioning of these neuronal mechanisms ..
  23. Ventral Mesopontine Junction and Motor Activity
    Yuan Yang Lai; Fiscal Year: 2006
    ..This proposed work is of critical importance for the understanding of RLS/PLMD, RBD and other motor pathologies of sleep and for the design of therapeutic strategies to reverse these disorders. ..
  24. ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME
    Judith Ross; Fiscal Year: 2007
    ..In addition, these data will help determine how to optimize cognitive function in Turner syndrome and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
  25. X-Linked Mental Retardation-Linkage
    Charles Schwartz; Fiscal Year: 2006
    ..In summary, this represents a unique study that combines a variety of methodologies and disciplines in order to better understand the role of genes on the X chromosome in brain development and function. ..
  26. Neural control of abnormal movement
    Terence Sanger; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  27. Circadian and Aminergic Regulation of Orexin Neurons
    THOMAS SCAMMELL; Fiscal Year: 2005
    ....
  28. Exploration of ETS Effects on Child Behavior and Sleep
    Kimberly Yolton; Fiscal Year: 2005
    ..abstract_text> ..
  29. GENETICS OF COGNITION IN ADULT TURNER SYNDROME
    Judith Ross; Fiscal Year: 2005
    ..Characterization of specific TS causative genes would provide insight into the pathophysiology of 45,X, Turner syndrome, as well as the process of normal neurocognitive development. ..
  30. NIH Task Force on Childhood Motor Disorders
    Terence Sanger; Fiscal Year: 2006
    ..The ultimate objective is to improve the functional abilities and societal participation of children with motor disorders. ..
  31. Lesch-Nyhan disease: dissecting the functions of HGprt
    HYDER JINNAH; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  32. Graduate Medical Education in Genetics
    Margaret McGovern; Fiscal Year: 2004
    ..abstract_text> ..
  33. SLEEP MECHANISMS IN THE AGED CAT
    Michael Chase; Fiscal Year: 2003
    ....
  34. STATE DEPENDENT CONTROL OF MOTORNEURON ACTIVITY
    Michael Chase; Fiscal Year: 2004
    ..abstract_text> ..
  35. ADENOSINE AND THE PREOPTIC REGULATION OF SLEEP
    THOMAS SCAMMELL; Fiscal Year: 2002
    ..These studies will provide important insights into the pre-optic and basal forebrain sites and mechanisms through which AD induces sleep. ..
  36. TRAINING WORKSHOP IN BASIC SLEEP RESEARCH
    Michael Chase; Fiscal Year: 2003
    ..In addition, the Workshops will include special sections dealing with ethics and grantsmanship; they will also provide a wide range of instruction on basic animal research and basic human research. ..
  37. INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES
    Roger Stevenson; Fiscal Year: 2003
    ....