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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathyDiagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiencyClinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesCreatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigreeInterstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromePrevalence of congenital muscular dystrophy in Italy: a population studyRandomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureDaily salbutamol in young patients with SMA type IIAHI1 gene mutations cause specific forms of Joubert syndrome-related disorders24 month longitudinal data in ambulant boys with Duchenne muscular dystrophyInborn errors of creatine metabolism and epilepsy.Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies.Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical developmentTRPV4 mutations in children with congenital distal spinal muscular atrophy.Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.RFT1 deficiency in three novel CDG patientsGM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boysLongitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyRevised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Burden, professional support, and social network in families of children and young adults with muscular dystrophies.Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts."I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.Reliability of the North Star Ambulatory Assessment in a multicentric setting.MECP2 duplication phenotype in symptomatic females: report of three further cases.Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
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P50
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P-9095-2017
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