Enza Maria Valente

Summary

Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
Country: Italy

Publications

  1. doi Genotypes and phenotypes of Joubert syndrome and related disorders
    Enza Maria Valente
    IRCCS CSS Mendel Institute, Neurogenetics Unit, Viale Regina Margherita 261, 00198 Rome, Italy
    Eur J Med Genet 51:1-23. 2008
  2. ncbi Genetic testing for paediatric neurological disorders
    Enza Maria Valente
    Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy
    Lancet Neurol 7:1113-26. 2008
  3. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
  4. ncbi Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
    Marta Romani
    IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, Neurogenetics Unit, San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 9:72. 2014
  5. pmc Genetic issues in the diagnosis of dystonias
    Simona Petrucci
    Neurogenetics Unit, CSS Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo, Italy Department of Experimental Medicine, Sapienza University of Rome Rome, Italy
    Front Neurol 4:34. 2013
  6. pmc Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies
    Marco Onofrj
    Department of Neuroscience and Imaging, University G d Annunzio of Chieti Pescara, Via dei Vestini, 66100 Chieti, Italy
    J Neurol 260:1731-42. 2013
  7. doi Joubert syndrome and related disorders
    Enza Maria Valente
    IRCCS CSS Mendel Institute, Rome and Department of Medicine and Surgery, University of Salerno, Salerno, Italy Electronic address
    Handb Clin Neurol 113:1879-88. 2013
  8. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
  9. pmc Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
    Marilena Briguglio
    Division of Child Neurology and Psychiatry, Dept of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy
    Orphanet J Rare Dis 6:36. 2011
  10. ncbi Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
    Enza Maria Valente
    Neurogenetics, C S S Mendel Institute, Viale Regina Margherita 261, I 00168 Rome, Italy
    Ann Neurol 51:681-5. 2002

Detail Information

Publications63

  1. doi Genotypes and phenotypes of Joubert syndrome and related disorders
    Enza Maria Valente
    IRCCS CSS Mendel Institute, Neurogenetics Unit, Viale Regina Margherita 261, 00198 Rome, Italy
    Eur J Med Genet 51:1-23. 2008
    ..We also discuss the emerging clinical and genetic overlap between JSRDs and a growing number of distinct syndromes that share a common pathogenetic mechanism that is the loss of normal function of the primary cilium and its apparatus...
  2. ncbi Genetic testing for paediatric neurological disorders
    Enza Maria Valente
    Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy
    Lancet Neurol 7:1113-26. 2008
    ..In this Review, we discuss these topics and how these concerns affect genetic counselling...
  3. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
    ..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders...
  4. ncbi Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
    Marta Romani
    IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, Neurogenetics Unit, San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 9:72. 2014
    ..Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome. ..
  5. pmc Genetic issues in the diagnosis of dystonias
    Simona Petrucci
    Neurogenetics Unit, CSS Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo, Italy Department of Experimental Medicine, Sapienza University of Rome Rome, Italy
    Front Neurol 4:34. 2013
    ..We briefly review the genetic basis of the most common forms of hereditary PTDs, and discuss relevant issues related to molecular diagnosis and genetic counseling...
  6. pmc Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies
    Marco Onofrj
    Department of Neuroscience and Imaging, University G d Annunzio of Chieti Pescara, Via dei Vestini, 66100 Chieti, Italy
    J Neurol 260:1731-42. 2013
    ..Recognizing that there is a clinical category of tremulous DLB may help the differential diagnosis of tremors...
  7. doi Joubert syndrome and related disorders
    Enza Maria Valente
    IRCCS CSS Mendel Institute, Rome and Department of Medicine and Surgery, University of Salerno, Salerno, Italy Electronic address
    Handb Clin Neurol 113:1879-88. 2013
    ..Moreover, the identification of mutations allows early prenatal diagnosis in couples at risk, while fetal neuroimaging may remain uninformative until the late second trimester of pregnancy...
  8. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
    ....
  9. pmc Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
    Marilena Briguglio
    Division of Child Neurology and Psychiatry, Dept of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy
    Orphanet J Rare Dis 6:36. 2011
    ..These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech...
  10. ncbi Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
    Enza Maria Valente
    Neurogenetics, C S S Mendel Institute, Viale Regina Margherita 261, I 00168 Rome, Italy
    Ann Neurol 51:681-5. 2002
    ..Urinary disturbances (urgency and/or incontinence) were always present, even in young patients with a short disease history...
  11. ncbi Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    Enza Maria Valente
    CSS IRCCS, Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
    Science 304:1158-60. 2004
    ..These data provide a direct molecular link between mitochondria and the pathogenesis of PD...
  12. ncbi Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
    Enza Maria Valente
    Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
    Nat Genet 38:623-5. 2006
    ..CEP290 expression was detected mostly in proliferating cerebellar granule neuron populations and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies...
  13. pmc Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
    Enza Maria Valente
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy
    Am J Hum Genet 73:663-70. 2003
    ..The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes...
  14. doi PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
    Roberta Marongiu
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 29:565. 2008
    ..Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion...
  15. pmc Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
    Lorena Travaglini
    1 IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory San Giovanni Rotondo, San Giovanni Rotondo, Italy 2 Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Eur J Hum Genet 21:1074-8. 2013
    ..Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus. ..
  16. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco Brancati
    IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
    Am J Hum Genet 81:104-13. 2007
    ..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
  17. ncbi AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
    Enza Maria Valente
    Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy
    Ann Neurol 59:527-34. 2006
    ..The frequency of mutations in the first positionally cloned gene, AHI1, is unknown...
  18. ncbi Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
    Roberta Marongiu
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 28:98. 2007
    ..15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene...
  19. doi Expanding CEP290 mutational spectrum in ciliopathies
    Lorena Travaglini
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy
    Am J Med Genet A 149:2173-80. 2009
    ..Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified...
  20. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin...
  21. ncbi Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity
    Enza Maria Valente
    C S S Mendel Institute, San Giovanni Rotondo and Rome, Italy
    Mov Disord 18:1047-51. 2003
    ..No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases...
  22. pmc MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
    Francesco Brancati
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 30:E432-42. 2009
    ..These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs...
  23. doi Olfactory dysfunction in Parkinsonism caused by PINK1 mutations
    Alessandro Ferraris
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy
    Mov Disord 24:2350-7. 2009
    ..A milder olfactory deficit, mostly involving discrimination, can be found in asymptomatic heterozygotes, possibly indicating an underlying preclinical neurodegenerative process...
  24. ncbi A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies
    Marco Castori
    Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza IRCCS CSS, Mendel Institute, Rome, Italy
    Invest Ophthalmol Vis Sci 46:3539-44. 2005
    ..To characterize clinically and genetically a four-generation Italian family with autosomal dominant retinal dystrophy...
  25. ncbi Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family
    Antonio Novelli
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy
    Eur J Hum Genet 12:579-83. 2004
    ....
  26. ncbi Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy
    Anna Rita Bentivoglio
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Rome, Italy
    Adv Neurol 94:171-8. 2004
  27. pmc Joubert Syndrome and related disorders
    Francesco Brancati
    Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 5:20. 2010
    ..After the first months of life, global prognosis varies considerably among JSRD subgroups, depending on the extent and severity of organ involvement...
  28. ncbi Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study
    Vania Gelmetti
    IRCCS CSS Mendel Institute, Rome, Italy
    Mov Disord 23:881-5. 2008
    ..These findings further expand the clinical spectrum of PINK1-related parkinsonism to include late onset, typical PD, and underline the existing difficulties in discriminating between mendelian parkinsonism and idiopathic PD...
  29. ncbi Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
    Francesco Brancati
    Istituto C S S Mendel, Rome, Italy
    Mov Disord 17:392-7. 2002
    ..These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family...
  30. ncbi PINK1 mutations are associated with sporadic early-onset parkinsonism
    Enza Maria Valente
    IRCCS Casa Solliero della Sofferenza, Mendel Institute, Rome, Italy
    Ann Neurol 56:336-41. 2004
    ..However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified...
  31. ncbi A novel family with an unusual early-onset generalized dystonia
    Giovanni Fabbrini
    Department of Neurological Sciences, University La Sapienza, Rome, Italy
    Mov Disord 20:81-6. 2005
    ..The condition we describe could be a newly recognized dystonia syndrome with parkinsonism...
  32. ncbi Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease
    Roberta Marongiu
    IRCCS CSS, Mendel Institute, Rome
    Mov Disord 21:1232-5. 2006
    ..2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD...
  33. doi Mutation screening of the DYT6/THAP1 gene in Italy
    Monica Bonetti
    IRCCS Casa Sollievo della Sofferenza, CSS Mendel Institute, Rome, Italy
    Mov Disord 24:2424-7. 2009
    ..Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD...
  34. ncbi PARK6-linked parkinsonism occurs in several European families
    Enza Maria Valente
    Institute for Medical Genetics C S S Mendel, Rome, Italy
    Ann Neurol 51:14-8. 2002
    ..PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients...
  35. ncbi Distinguishing the four genetic causes of Jouberts syndrome-related disorders
    Enza Maria Valente
    IRCCS CSS, Mendel Institute, Rome, Italy
    Ann Neurol 57:513-9. 2005
    ..This provides a useful framework for genetic testing strategies and prediction of which patients are most likely to experience development of systemic complications...
  36. pmc Joubert syndrome: congenital cerebellar ataxia with the molar tooth
    Marta Romani
    Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Lancet Neurol 12:894-905. 2013
    ..Such variability is probably explained by an oligogenic model of inheritance, in which the interplay of mutations, rare variants, and polymorphisms at distinct loci modulate the expressivity of the ciliary phenotype. ..
  37. doi Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease
    Alessandro Stefani
    IRCCS Fondazione S Lucia, Rome, Italy
    Neurol Sci 34:383-6. 2013
    ....
  38. pmc Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
    Alessandro Ferraris
    Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy
    Orphanet J Rare Dis 8:75. 2013
    ..The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM...
  39. doi Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype
    Carlo C Quattrocchi
    Unit of Neuroradiology, Bambino Gesu Children s Research Hospital IRCCS, Rome, Italy
    Neurogenetics 14:77-83. 2013
    ....
  40. ncbi Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
    Anna Modoni
    Department of Neuroscience, Catholic University, Rome, Italy
    J Clin Neurophysiol 28:39-44. 2011
    ..The 3 Hz protocol was well tolerated and showed good sensitivity and reproducibility. Furthermore, this test might be suitable for genotype-phenotype correlation studies...
  41. pmc Primary cilia in neurodevelopmental disorders
    Enza Maria Valente
    Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini, 71013 San Giovanni Rotondo FG, Italy
    Nat Rev Neurol 10:27-36. 2014
    ..Herein, we review neurological features associated with primary ciliopathies, highlight genotype-phenotype correlations, and discuss potential mechanisms underlying these findings. ..
  42. ncbi The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
    Sveva Romani
    Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy Department of Molecular Medicine, Sapienza University, Rome, Italy
    Differentiation 87:134-46. 2014
    ..Altogether, these results demonstrate a pivotal role of Meckelin and Jouberin during embryonic neural specification and indicate mESCs as a suitable tool to investigate the developmental impact of ciliary proteins dysfunction. ..
  43. ncbi A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
    Ginevra Zanni
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Epilepsy Res 108:811-5. 2014
    ..These findings expand the clinical spectrum of the syndrome and indicate NHE6 dysfunction as a new cause of electrical status epilepticus during slow-wave sleep (ESES). ..
  44. pmc The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
    Alessandra Terracciano
    Unit of Neuromuscular and Neurodegenerative Disorders, Lab of Molecular Medicine, Dept of Neuroscience, Bambino Gesù Childrens Hospital, Rome, Italy
    Eur J Paediatr Neurol 16:248-56. 2012
    ..We think that muscle biopsy is a valuable procedure to improve diagnostic assesement in children with congenital ataxia or other undefined forms of later onset childhood ataxia associated to cerebellar atrophy at MRI...
  45. doi Molecular pathways in sporadic PD
    Enza Maria Valente
    Neurogenetics Unit, CSS Mendel Institute, Rome, Italy
    Parkinsonism Relat Disord 18:S71-3. 2012
    ..These findings are opening novel interesting perspectives to identify critical molecular pathways leading to neurodegeneration...
  46. ncbi Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements
    Oronzo Scarciolla
    Aging Research Center, CeSI, University G D Annunzio, Chieti, Italy
    Mov Disord 22:2274-8. 2007
    ..Thus, the use of this novel platform can improve the analysis of such mutations, facilitating comprehensive genetic testing in PD and EOP...
  47. ncbi Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study
    Naheed L Khan
    Department of Molecular Pathogenesis, Institute of Neurology, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, United Kingdom
    Ann Neurol 52:849-53. 2002
    ..The subclinical loss of striatal dopamine storage capacity found in the PARK6 carriers implies that the unidentified gene on the short arm of chromosome 1 exhibits either haploinsufficency or a dominant negative effect...
  48. ncbi Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Invest Ophthalmol Vis Sci 48:4284-90. 2007
    ..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
  49. ncbi Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
    Laura Silvestri
    Human Molecular Genetics Unit, DIBIT San Raffaele Scientific Institute, Milan, Italy
    Hum Mol Genet 14:3477-92. 2005
    ..We also demonstrate the mitochondrial localization of both wild-type and mutant PINK1 proteins unequivocally and prove that a short N-terminal part of PINK1 is sufficient for its mitochondrial targeting...
  50. ncbi Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
    Giovanni Stevanin
    INSERM U679, Salpetriere Hospital, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurogenetics 7:149-56. 2006
    ..Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy...
  51. ncbi PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism
    Chiara Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Mov Disord 21:1265-7. 2006
    ..The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission...
  52. ncbi Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
    Mattia Gambarin
    Department of Neurological and Visual Sciences, Neurological Section, University of Verona, Italy
    Mov Disord 21:1782-4. 2006
    ..However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia...
  53. pmc Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
    Vincent Cantagrel
    Department of Neurosciences, Laboratory of Neurogenetics, Howard Hughes Medical Institute, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0691, USA
    Am J Hum Genet 83:170-9. 2008
    ..Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs...
  54. ncbi Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
    Mirta Fiorio
    Department of Neurological and Vision Sciences, Section of Rehabilitative Neurology, University of Verona, Verona, Italy
    Brain 130:134-42. 2007
    ....
  55. ncbi Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
    Nicole Revencu
    Laboratory of Human Molecular Genetics, de Duve Institute, Universite Catholique de Louvain, Brussels, Belgium
    Hum Mutat 29:959-65. 2008
    ..Finally, some CM-AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity...
  56. ncbi Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas
    Elena Pedrini
    Modulo di Familiarità e Genetica, Lab Ricerca Oncologica, Istituti Ortopedici Rizzoli, Bologna, Italy
    Hum Mutat 26:280. 2005
    ..Neither false positive nor false negative results were obtained. This multistep method can be considered a fast and reliable diagnostic strategy for the detection of EXT1/2 mutations, with excellent sensitivity and specificity...
  57. ncbi Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex
    Enza Maria Valente
    Lancet Neurol 6:576-8. 2007
  58. ncbi An SCN9A channelopathy causes congenital inability to experience pain
    James J Cox
    Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome MRC Building, Addenbrooke s Hospital, Cambridge CB2 0XY, UK
    Nature 444:894-8. 2006
    ..Our data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans. These findings should stimulate the search for novel analgesics that selectively target this sodium channel subunit...
  59. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  60. ncbi Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
    Giovanni Defazio
    Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    Mov Disord 18:207-12. 2003
    ..These findings suggest that primary familial adult-onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene...
  61. ncbi Deep brain stimulation in myoclonus-dystonia syndrome
    Laura Cif
    Department of Neurosurgery, Research Group on Movement Disorders in Children, Gui de Chauliac University Hospital, Montpellier, France
    Mov Disord 19:724-7. 2004
    ..We conclude that deep brain stimulation can be an effective and safe treatment for MDS...
  62. ncbi Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
    Jordi Clarimon
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Mov Disord 22:162-6. 2007
    ..These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia...
  63. ncbi Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
    Pierre Castelnau
    Pediatric Neurology and Institut National de la Sante et de la Recherche Médicale UB19 Hôpital Gatien de Clocheville, Centre Hospitalo Universitaire, Tours, France 619
    Ann Neurol 57:738-41. 2005
    ..This study shows the benefits of pallidal DBS for the dystonia of PKAN patients...