P Hedera

Summary

Affiliation: Vanderbilt University
Country: USA

Publications

  1. ncbi request reprint Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin II. The denture cream is a primary source of excessive zinc
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurotoxicology 30:996-9. 2009
  2. ncbi request reprint Recurrent de novo c.316G>A mutation in NIPA1 hotspot
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN, United States Electronic address
    J Neurol Sci 335:231-2. 2013
  3. pmc Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN, USA
    BMC Neurol 12:93. 2012
  4. pmc Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism
    Rachel Dolhun
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN, USA
    BMC Neurol 13:92. 2013
  5. doi request reprint FUS in familial essential tremor - the search for common causes is still on
    Peter Hedera
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    Parkinsonism Relat Disord 19:818-20. 2013
  6. doi request reprint Surgical targets for dystonic tremor: considerations between the globus pallidus and ventral intermediate thalamic nucleus
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN, USA
    Parkinsonism Relat Disord 19:684-6. 2013
  7. pmc High-throughput mutational analysis of TOR1A in primary dystonia
    Jianfeng Xiao
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA
    BMC Med Genet 10:24. 2009
  8. pmc The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures
    Shaochun Ma
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    BMC Med Genet 6:13. 2005
  9. ncbi request reprint Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    Epilepsia 47:1622-8. 2006
  10. ncbi request reprint Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene
    Peter Hedera
    Department of Neurology, Program in Human Genetics, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    Epilepsia 45:218-22. 2004

Research Grants

Collaborators

Detail Information

Publications60

  1. ncbi request reprint Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin II. The denture cream is a primary source of excessive zinc
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurotoxicology 30:996-9. 2009
    ..Their copper and zinc normalized after stopping denture cream, further confirming that this is the source of high zinc. Inappropriate use of denture cream appears to be the sole source of excessive zinc in these patients...
  2. ncbi request reprint Recurrent de novo c.316G>A mutation in NIPA1 hotspot
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN, United States Electronic address
    J Neurol Sci 335:231-2. 2013
    ..Apparently sporadic patients without a positive family history of hereditary spastic paraplegia need to be also evaluated for possible disease-causing mutations in genes that are inherited in an autosomal dominant fashion. ..
  3. pmc Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN, USA
    BMC Neurol 12:93. 2012
    ..2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family...
  4. pmc Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism
    Rachel Dolhun
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN, USA
    BMC Neurol 13:92. 2013
    ..Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been established...
  5. doi request reprint FUS in familial essential tremor - the search for common causes is still on
    Peter Hedera
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    Parkinsonism Relat Disord 19:818-20. 2013
    ..We did not identify a single pathogenic mutation. Our data suggest that FUS mutations are a rare cause of familial ET. ..
  6. doi request reprint Surgical targets for dystonic tremor: considerations between the globus pallidus and ventral intermediate thalamic nucleus
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN, USA
    Parkinsonism Relat Disord 19:684-6. 2013
    ..We propose that the patients with DT with a mild dystonia should be considered for Vim DBS procedure and the coexistence of severe DT and dystonia may be successfully controlled by combined GPi and Vim DBS surgeries...
  7. pmc High-throughput mutational analysis of TOR1A in primary dystonia
    Jianfeng Xiao
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN, USA
    BMC Med Genet 10:24. 2009
    ..The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia...
  8. pmc The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures
    Shaochun Ma
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    BMC Med Genet 6:13. 2005
    ..We attempted to replicate this study in our cohort of patients with TLE. Furthermore, we also analyzed the coding sequence of this gene and searched for disease-causing mutations...
  9. ncbi request reprint Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    Epilepsia 47:1622-8. 2006
    ..To report results of linkage analysis in a large family with autosomal dominant (AD) febrile seizures (FS) and epilepsy...
  10. ncbi request reprint Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene
    Peter Hedera
    Department of Neurology, Program in Human Genetics, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    Epilepsia 45:218-22. 2004
    ..ADLTE is characterized by partial seizures with symptoms suggestive of a lateral temporal onset, including frequent auditory aura. Here we report the results of clinical and genetic analyses of two newly identified families with ADTLE...
  11. ncbi request reprint Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3
    P Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurology 68:2107-12. 2007
    ..To report results of linkage analysis in a large family with autosomal dominant (AD) familial mesial temporal lobe epilepsy (FMTLE)...
  12. ncbi request reprint The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis
    Peter Hedera
    Department of Neurology, University of Michigan Medical Center, Ann Arbor, USA
    Arch Neurol 60:1321-5. 2003
    ..Genetic causes within this subgroup of muscle disorders remain largely unknown. An MPD linked to chromosome 14q11-q13 (MPD1) is rare, and to our knowledge, only one family with definitive linkage has been described...
  13. ncbi request reprint Myelopolyneuropathy and pancytopenia due to copper deficiency and high zinc levels of unknown origin: further support for existence of a new zinc overload syndrome
    Peter Hedera
    Department of Neurology, University of Michigan, Ann Arbor, USA
    Arch Neurol 60:1303-6. 2003
    ..To describe a patient with idiopathic zinc overload without an identifiable source and secondary copper deficiency causing myelopolyneuropathy and pancytopenia...
  14. ncbi request reprint Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features
    Peter Hedera
    Department of Pediatrics, Division of Genetics, University of Michigan, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0618, USA
    Am J Med Genet A 122:257-60. 2003
    ..The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes...
  15. ncbi request reprint Positive family history of essential tremor influences the motor phenotype of Parkinson's disease
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8522, USA
    Mov Disord 24:2285-8. 2009
    ..83, P < 0.001). Tremor-dominant subtype of PD in patients with a positive family history of ET suggests that these patients have inherited a genetic susceptibility factor for tremor, which affects the motor phenotype of PD...
  16. doi request reprint Rotigotine adverse effects affecting patient's sexual partner
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Clin Neuropharmacol 33:46-7. 2010
    ..This previously unrecognized mechanism may be more common and associated with other psychoactive compounds penetrating the blood-testis barrier, and it may account for otherwise unexplained postcoital somnolence or fatigue...
  17. pmc Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    BMC Neurol 10:66. 2010
    ..Many patients with clinically definite ET develop dystonia. It remains unknown whether tremor associated with dystonia represent a subtype of ET. We hypothesized that ET with dystonia represents a distinct subtype of ET...
  18. ncbi request reprint Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Arch Neurol 61:1600-3. 2004
    ..The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established...
  19. ncbi request reprint Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
    X Zhao
    Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 29:326-31. 2001
    ..Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals...
  20. ncbi request reprint Prenatal diagnosis of hereditary spastic paraplegia
    P Hedera
    Department of Neurology, University of Michigan, Ann Arbor, MI, USA
    Prenat Diagn 21:202-6. 2001
    ..This is the first report of prenatal testing for HSP. Published in 2001 by John Wiley & Sons, Ltd...
  21. ncbi request reprint Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
    Shaochun Ma
    Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA
    Mov Disord 21:1368-74. 2006
    ..ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors...
  22. pmc Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q
    J K Fink
    Department of Neurology, University of Michigan, Michigan 48109, USA
    Am J Hum Genet 59:140-5. 1996
    ....
  23. ncbi request reprint Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
    P Hedera
    Department of Neurology, The University of Michigan, Rm 5214 CCGCB, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0940, USA
    Neuroradiology 47:730-4. 2005
    ..This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations...
  24. ncbi request reprint Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder
    P Hedera
    Department of Neurology, University of Michigan, 1500 E Medical Center Drive, Ann Arbor, MI 48109, USA
    Neurology 58:411-6. 2002
    ..To describe a kindred with a dominantly inherited neurologic disorder manifested either as uncomplicated spastic paraplegia or ataxia, spastic paraplegia, and mental retardation...
  25. pmc Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
    P Hedera
    Department of Neurology, University of Michigan, Ann Arbor, MI 48109 0940, USA
    Am J Hum Genet 64:563-9. 1999
    ....
  26. ncbi request reprint Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4
    Peter Hedera
    Department of Neurology, University of Michigan, Ann Arbor, USA
    Ann Neurol 51:45-50. 2002
    ..The syndrome we describe, designated X-linked mental retardation and epilepsy, is clinically and genetically distinct from X-linked West syndrome and other X-linked mental retardation-epilepsy syndromes...
  27. ncbi request reprint Systematic isolation and characterization of cDNAs encoding AAA proteins from human brain
    Xinping Zhao
    Department of Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA
    Bratisl Lek Listy 107:418-21. 2006
    ..We used degenerative PCR, based on the conserved AAA peptide sequence to systematically clone and characterize AAA genes expressed in human brain...
  28. ncbi request reprint Familial genetic predisposition, epilepsy localization and antecedent febrile seizures
    B Abou-Khalil
    Epilepsy Res 73:104-10. 2007
    ..The magnitude of genetic influence in epilepsy may vary in relation to epilepsy classification and localization and factors such as antecedent febrile seizures. We assessed this genetic influence in a large epilepsy population...
  29. doi request reprint Confined stimulation using dual thalamic deep brain stimulation leads rescues refractory essential tremor: report of three cases
    Hong Yu
    Department of Neurosurgery, Vanderbilt School of Medicine, Nashville, TN 37232 2380, USA
    Stereotact Funct Neurosurg 87:309-13. 2009
    ..For these patients, the high voltage needed to adequately control tremor also generates circumferential current spread causing intolerable adverse effects...
  30. ncbi request reprint Infantile onset of hereditary spastic paraplegia poorly predicts the genotype
    Marcia A Blair
    Department of Neurology Vanderbilt University, Nashville, TN 37232 8552, USA
    Pediatr Neurol 36:382-6. 2007
    ..Pediatric neurologists need to be aware of relatively frequent de novo mutations in hereditary spastic paraplegia genes and a possibility that this condition presents in infancy without a positive family history...
  31. pmc Novel THAP1 sequence variants in primary dystonia
    J Xiao
    Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Neurology 74:229-38. 2010
    ..Subsequent screening efforts in familial, mainly early-onset, primary dystonia identified additional THAP1 sequence variants in non-Amish subjects...
  32. pmc Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1
    P Hedera
    Department of Pediatrics, Division of Medical Genetics, University of Michigan, MI, USA
    J Med Genet 39:484-8. 2002
    ..Here we report clinical features of a kindred with a unique AD MFD with the exclusion of linkage to the TCS locus (TCOF1) on chromosome 5q31-q32...
  33. ncbi request reprint Treatment of Wilson's disease with zinc. XVII: treatment during pregnancy
    G J Brewer
    Department of Human Genetics, Division of Speech Pathology, Michigan Medical School, Ann Arbor, MI, USA
    Hepatology 31:364-70. 2000
    ..The evidence is good that zinc protects the health of the mother during pregnancy. Fetal outcomes were generally quite good, although one baby had a surgically correctable heart defect and one had microcephaly...
  34. ncbi request reprint Genetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patients
    M A Blair
    Department of Neurology, Vanderbilt University, Nashville, TN, USA
    Eur J Neurol 14:424-7. 2007
    ..Our data suggest that the genetic variants in the IMPA2 gene are not associated with a risk of FS in Caucasian patients and patients from various genetic groups are likely to have different genetic causes of FS...
  35. pmc Reappraisal of the role of the DRD3 gene in essential tremor
    Marcia A Blair
    Department of Neurology, Vanderbilt University, TN, USA
    Parkinsonism Relat Disord 14:471-5. 2008
    ..Analyze the distribution of polymorphism in the dopamine receptor D3 (DRD3) gene, which was previously reported as a susceptibility risk for essential tremor (ET), in a large cohort of ET...
  36. ncbi request reprint Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia
    Marcia A Blair
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurogenetics 7:47-50. 2006
    ..1+/-4 years. Our results demonstrate that mutations in the KIF5A gene can also be associated with an adult age of onset of AD HSP...
  37. ncbi request reprint Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
    Shaochun Ma
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    Epilepsy Res 71:129-34. 2006
    ..Our data suggests that the majority of familial AD JME is not caused by mutations in the GABRA1 and EFHC1 genes...
  38. pmc Deep brain stimulation in early Parkinson's disease: enrollment experience from a pilot trial
    P D Charles
    Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Parkinsonism Relat Disord 18:268-73. 2012
    ..DBS has not been studied in the early stages of PD, but early application should be explored to evaluate safety, efficacy, and the potential to alter disease progression...
  39. doi request reprint Prevalence of unilateral tremor in autosomal dominant essential tremor
    Fenna Phibbs
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    Mov Disord 24:108-11. 2009
    ..Our data shows that unilateral tremor associated with ET is relatively rare and can be identified in 4.4% patients in a cohort of familial ET...
  40. pmc Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor
    Lisa M Sharkey
    Department of Human Genetics, University of Michigan, 4812 Med Sci II, 1241 Catherine Street, Ann Arbor, MI 48109 5618, USA
    Parkinsonism Relat Disord 15:321-3. 2009
    ..SCN8A encodes the neuronal voltage gated sodium channel Na(v)1.6 that is widely expressed in the central nervous system. Several mutations of Scn8a in the mouse result in congenital postural tremor of the extremities and head...
  41. ncbi request reprint Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures
    Shaochun Ma
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurosci Lett 394:74-8. 2006
    ..We conclude that these genes are not a major genetic factor in familial TLE preceded by FS...
  42. ncbi request reprint Ethical principles and pitfalls of genetic testing for dementia
    P Hedera
    Department of Neurology, University of Michigan, Ann Arbor 48109-0940, USA
    J Geriatr Psychiatry Neurol 14:213-21. 2001
    ..Predictive testing of unaffected subjects using susceptibility genes is currently not recommended because individual risk cannot be quantified and there are no therapeutic interventions for dementia in presymptomatic patients...
  43. ncbi request reprint Neuroimaging of vessel amyloid in Alzheimer's disease
    R P Friedland
    Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
    Ann N Y Acad Sci 826:242-7. 1997
    ..Alternately, imaging using labeled A beta itself may provide a means for noninvasive targeting of cerebral amyloid...
  44. ncbi request reprint Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome
    P Hedera
    Department of Pediatrics, Division of Pediatric Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Am J Med Genet 101:142-5. 2001
    ..The combination of clinical features found in these affected males is unique and supports the existence of RHYNS syndrome as a separate and distinct entity...
  45. ncbi request reprint Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease
    George J Brewer
    Department of Human Genetics, University of Michigan Medical School, 5024 Kresge Bldg II, Ann Arbor, MI 48109 0534, USA
    Arch Neurol 63:521-7. 2006
    ..To compare tetrathiomolybdate and trientine in treating patients with the neurologic presentation of Wilson disease for the frequency of neurologic worsening, adverse effects, and degree of neurologic recovery...
  46. ncbi request reprint Inherited dementias
    Peter Hedera
    Department of Neurology, Vanderbilt University, Nashville, Tennesse, USA
    Neurol Clin 20:779-808, vii. 2002
    ....
  47. ncbi request reprint Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance
    Peter Hedera
    Department of Pediatrics and Communicable Diseases, University of Michigan Medical System, Ann Arbor, Michigan 48109, USA
    Am J Med Genet A 123:261-6. 2003
    ..These two individuals also displayed a skewed pattern of X chromosome inactivation. Together, these data strongly support the hypothesis that OFCD is inherited as an X-linked dominant condition...
  48. pmc Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism
    Jiali Zhao
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
    J Neurosci 28:13938-51. 2008
    ..We propose that HSP-associated mutations in NIPA1 lead to cellular and functional deficits through a gain-of-function mechanism supporting the ER accumulation of toxic NIPA1 proteins...
  49. ncbi request reprint Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family
    Paolo Moretti
    Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA
    Mov Disord 20:245-7. 2005
    ..This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2)...
  50. ncbi request reprint Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy
    George J Brewer
    Department of Human Genetics, University of Michigan Medical School, 4909 Buhl, Ann Arbor, MI 48109 0618, USA
    Arch Neurol 60:379-85. 2003
    ..It is unclear what anticopper drug to use for patients with Wilson disease who present with neurologic manifestations because penicillamine often makes them neurologically worse and zinc is slow acting...
  51. ncbi request reprint New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation
    Christina A Gurnett
    Department of Neurology, 660 S Euclid Ave, Box 8111, Washington University School of Medicine, St Louis, MO 63110, USA
    Arch Neurol 64:324-8. 2007
    ..This review will describe several novel epilepsy genes and will then discuss other genetic causes of epilepsy, including alterations of chromosomal copy number and gene regulatory elements...
  52. ncbi request reprint Possible third case of Lin-Gettig syndrome
    Peter Hedera
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Am J Med Genet 110:380-3. 2002
    ..The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity...
  53. ncbi request reprint Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome
    Jeffrey W Innis
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Am J Med Genet A 131:77-81. 2004
    ....
  54. ncbi request reprint Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome
    Frank J Probst
    Am J Med Genet A 131:209-12. 2004
  55. pmc Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
    Christopher Meredith
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Am J Hum Genet 75:703-8. 2004
    ..These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified...
  56. ncbi request reprint The spastin jigsaw puzzle: another missing piece found
    Peter Hedera
    Neurology 67:1912-3. 2006
  57. ncbi request reprint Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
    Emma N Hilton
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 16:1773-82. 2007
    ..Expression of xtPitx2c was shown to be downregulated when xtBcor was depleted. This identifies a pathway in which xtBcor is required for lateral specification, a process intrinsically linked to correct cardiac septal development...
  58. doi request reprint Complicated autosomal recessive hereditary spastic paraplegia: a complex picture is emerging
    Peter Hedera
    Neurology 70:1375-6. 2008

Research Grants1

  1. Hereditary spastic paraplegia linked to chromosomes 8q
    Peter Hedera; Fiscal Year: 2006
    ..I will characterize the phenotype of transgenic animals. The study of a transgenic animal model will further enhance current state of knowledge about the pathophysiology of HSP and axonal degeneration. ..