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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientSpinal muscular atrophyX-linked disorders with cerebellar dysgenesisMutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanMetabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsMegalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutationsRespiratory complex I in brain development and genetic diseaseDecreased guanine nucleotide exchange factor activity in eIF2B-mutated patientsA severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutationMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseDescription, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCRInfantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneUnstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron diseaseUllrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VIMutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesClinical and molecular phenotype of Aicardi-Goutieres syndromeCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe cytoskeletal arrangements necessary to neurogenesisHypomyelinating leukodystrophies: translational research progress and prospectsFunctional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal StudyPOPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingTBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyIntrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutationA heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathyPhenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophySpectrum of SCN1A mutations in severe myoclonic epilepsy of infancyGenetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cystsCollagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophyInfantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesMutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegiaMutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesCongenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyMutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeClinical features, risk factors, and prognosis in transient global amnesia: a follow-up studyMutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterCongenital muscular dystrophies: a brief reviewPrevalence of congenital muscular dystrophy in Italy: a population studyA new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts
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P50
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Enrico Bertini
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Enrico Bertini
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Enrico Bertini
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Enrico Bertini
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Enrico Bertini
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Enrico Bertini
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P1053
A-2284-2014
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P1153
26643006000
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enrico-bertini2
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0000-0001-9276-4590