Genomes and Genes
Enza Maria Valente
Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
- Genotypes and phenotypes of Joubert syndrome and related disordersEnza 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...
- Genetic testing for paediatric neurological disordersEnza 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...
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza 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...
- Parkinson Disease Genetics: A "Continuum" From Mendelian to Multifactorial InheritanceS Petrucci
Neurogenetics Unit, CSS Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
Curr Mol Med . 2014....
- Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndromeMarta 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. ..
- Genetic issues in the diagnosis of dystoniasSimona 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...
- Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodiesMarco 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...
- Joubert syndrome and related disordersEnza 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...
- Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti
Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
Orphanet J Rare Dis 7:4. 2012....
- Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patientsMarilena 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...
- Hereditary early-onset Parkinson's disease caused by mutations in PINK1Enza 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...
- Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza 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...
- Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformationEnza 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...
- Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34Enza 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...
- PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrumRoberta 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...
- Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersLorena 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. ..
- CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco 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...
- AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza 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...
- Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrumRoberta 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...
- Expanding CEP290 mutational spectrum in ciliopathiesLorena 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...
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam 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...
- Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneityEnza 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...
- MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco 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...
- Olfactory dysfunction in Parkinsonism caused by PINK1 mutationsAlessandro 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...
- A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophiesMarco 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...
- Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian familyAntonio Novelli
IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy
Eur J Hum Genet 12:579-83. 2004....
- Clinical presentation and progression of sporadic and familial primary torsion dystonia in ItalyAnna Rita Bentivoglio
Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Rome, Italy
Adv Neurol 94:171-8. 2004
- Joubert Syndrome and related disordersFrancesco 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...
- Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystoniaFrancesco 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...
- Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional studyVania 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...
- Mutation screening of the DYT6/THAP1 gene in ItalyMonica 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...
- Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's diseaseRoberta 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...
- PINK1 mutations are associated with sporadic early-onset parkinsonismEnza 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...
- A novel family with an unusual early-onset generalized dystoniaGiovanni 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...
- Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi
CSS Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Eur J Hum Genet 24:1262-7. 2016..No LAMA1 variants could be detected in 27 probands with different cerebellar dysplasias or non-progressive cerebellar ataxia, confirming the strong correlate between LAMA1 variants and PBS. ..
- Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian familiesLucia Ricciardi
Institute of Neurology, Universita Cattolica del Sacro Cuore, Rome, Italy
Mov Disord 29:1561-6. 2014..Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism...
- Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza 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...
- PARK6-linked parkinsonism occurs in several European familiesEnza 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...
- Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic FormElena Makovac
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy
PLoS ONE 11:e0163980. 2016..We conclude that both homozygous and heterozygous carriers exhibit pathophysiological changes unveiled by RS-fMRI, which can account for the presence/severity of cognitive symptoms...
- Joubert syndrome: congenital cerebellar ataxia with the molar toothMarta 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. ..
- Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's diseaseAlessandro Stefani
IRCCS Fondazione S Lucia, Rome, Italy
Neurol Sci 34:383-6. 2013....
- Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro 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...
- Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotypeCarlo C Quattrocchi
Unit of Neuroradiology, Bambino Gesu Children s Research Hospital IRCCS, Rome, Italy
Neurogenetics 14:77-83. 2013....
- Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenitaAnna 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...
- Impulsive-compulsive behaviors in parkin-associated Parkinson diseaseFrancesca Morgante
From the Department of Clinical and Experimental Medicine F M, C S, University of Messina, Italy Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J Safra Program in Parkinson s Disease A F, Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Canada Department of Neurology and Psychiatry S P, Sapienza University of Rome, Italy Sobell Department of Motor Neuroscience and Movement Disorders L R, Institute of Neurology, University College London, UK Department of Geriatrics, Neuroscience and Orthopedics F B, A R B, Universita Cattolica del Sacro Cuore, Rome Department of Neurosciences, Reproductive and Odontostomatological Sciences C C, M M, A D R, G D M, Federico II University, Naples Department of Medicine and Surgery M G, M M, P B, M T P, E M V, Neuroscience Section, University of Salerno, and Neurogenetics Unit E M V, IRCCS Santa Lucia Foundation, Rome, Italy
Neurology 87:1436-1441. 2016....
- Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani
Lab Mendel, IRCCS Casa Sollievo della Sofferenza, Viale Regina Margherita 261, 00198, Rome, Italy
Hum Genet 134:123-6. 2015..non-mutated OFDVI patients showed that preaxial and mesoaxial polydactyly, hypothalamic hamartoma and other congenital defects may predict C5orf42 mutations, while tongue hamartomas are more common in negative patients. ..
- Primary cilia in neurodevelopmental disordersEnza 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. ..
- The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cellsSveva 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. ..
- 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). ..
- The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in childrenAlessandra 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...
- "Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani
CSS Mendel Institute M R, T M, E M V, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy Division of Immunology C M, Boston Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA Institut Jérôme Lejeune A M, Paris, France and Section of Neurosciences E M V, Department of Medicine and Surgery, University of Salerno, Salerno, Italy
Neurol Genet 2:e61. 2016..Among these, CMT4B includes 3 forms related to genes of the myotubularin family, namely CMT4B1 (MTMR2), CMT4B2 (MTMR13/SBF2), and CMT4B3 (MTMR5/SBF1). ..
- Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibsRaffaella Di Giacopo
Center for Neurocognitive Rehabilitation CeRiN, Mind Brain Sciences CIMEC, University of Trento, Azienda provinciale per i servizi sanitari APSS, Trento, Italy Centro per i Disturbi del Movimento, Universita Cattolica del Sacro Cuore, Rome, Italy Electronic address
J Neurol Sci 356:65-71. 2015..This work investigated the molecular cause responsible for a late-onset parkinsonism-dystonia phenotype in three Italian siblings, and clinically characterize this condition...
- Molecular pathways in sporadic PDEnza 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...
- Candidate genes for Parkinson disease: Lessons from pathogenesisPriscilla De Rosa
IRCCS Casa Sollievo della Sofferenza, CSS Mendel Institute, San Giovanni Rotondo, Italy
Clin Chim Acta 449:68-76. 2015....
- Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular modelsSimona Petrucci
CSS Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy Department of Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
Parkinsonism Relat Disord 22:S16-20. 2016..This review aims at providing a clinical and functional update on the most recent findings in alpha-syn genetics, at the same time discussing novel avenues of SNCA research such as those on somatic mutations and epigenetic mechanisms. ..
- Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET studyNaheed 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...
- PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonismChiara 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...
- Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangementsOronzo 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...
- Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonismLaura 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...
- Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni 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...
- Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent 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...
- Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystoniaMattia 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...
- Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patientsFrancesca 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...
- Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complexEnza Maria Valente
Lancet Neurol 6:576-8. 2007
- Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian 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...
- Pallidal stimulation improves pantothenate kinase-associated neurodegenerationPierre 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...
- Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasmJordi 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...
- 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....
- Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned geneGiovanni 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...
- Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole 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...
- Deep brain stimulation in myoclonus-dystonia syndromeLaura 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...
- An SCN9A channelopathy causes congenital inability to experience painJames 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...
- Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromasElena 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...