about
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvementPrevalence of congenital muscular dystrophy in Italy: a population studyCavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.Bone and Spinal Muscular Atrophy.Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoproteinOutcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children.Peripheral neuropathy in mitochondrial disorders.Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.Redefining phenotypes associated with mitochondrial DNA single deletion.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome."Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE geneScreening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsCOA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiencyIdentification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Cortical myoclonus in childhood and juvenile onset Huntington's disease.Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
P50
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P50
name
Isabella Moroni
@en
type
label
Isabella Moroni
@en
prefLabel
Isabella Moroni
@en