about
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingMutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsNext-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids.Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast.The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.A de novo C19orf12 heterozygous mutation in a patient with MPAN.Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis.Skeletal muscle gene expression profiling in mitochondrial disorders.Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III miceIn vivo biolistic technique in control and mdx dystrophic miceLongitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutationHigh mutational burden in the mtDNA control region from aged muscles: a single-fiber studyPOLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletionsEvidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patientsPurkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutationA collection of 33 novel human mtDNA homoplasmic variants
P50
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P50
name
Andreina Bordoni
@en
type
label
Andreina Bordoni
@en
prefLabel
Andreina Bordoni
@en