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Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

Biochimica et biophysica acta. Molecular basis of disease, 2018-12, Vol.1864 (12), p.3588-3597

2018

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Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

The Journal of clinical investigation, 2008-10, Vol.118 (10), p.3316-3330

2008

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TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Frontiers in genetics, 2020-08, Vol.11, p.860-860

2020

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Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.839-845

2020

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POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

BMC neurology, 2013-01, Vol.13 (1), p.8-8, Article 8

2013

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Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

BMC neurology, 2011-07, Vol.11 (1), p.85-85, Article 85

2011

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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

BMC medical genetics, 2011-03, Vol.12 (1), p.37-37, Article 37

2011

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Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis

Critical care medicine, 2016-07, Vol.44 (7), p.e579-e582

2016

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Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Brain (London, England : 1878), 2019-02, Vol.142 (2), p.276-294

2019

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Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

JAMA neurology, 2015-06, Vol.72 (6), p.666

2015

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Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons

Human molecular genetics, 2016-10, Vol.25 (19), p.4266-4281

2016

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Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome

Human molecular genetics, 2019-12, Vol.28 (23), p.3921-3927

2019

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Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

Parkinsonism & related disorders, 2019-06, Vol.63, p.66-72

2019

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Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

Journal of neuroscience research, 2018-09, Vol.96 (9), p.1576-1585

2018

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Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

Journal of neurology, 2011-09, Vol.258 (9), p.1610-1623

2011

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A de novo C19orf12 heterozygous mutation in a patient with MPAN

Parkinsonism & related disorders, 2018-03, Vol.48, p.109-111

2018

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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Brain (London, England : 1878), 2012-11, Vol.135 (Pt 11), p.3404-3415

2012

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Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

Biochimica et biophysica acta. Molecular basis of disease, 2018-10, Vol.1864 (10), p.3407-3417

2018

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Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

Scientific reports, 2017-04, Vol.7 (1), p.46271-46271, Article 46271

2017

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Glycogen storage disease type III: A novel Agl knockout mouse model

Biochimica et biophysica acta. Molecular basis of disease, 2014-11, Vol.1842 (11), p.2318-2328

2014

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A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

Journal of the neurological sciences, 2005-12, Vol.239 (1), p.21-24

2005

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Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Brain (London, England : 1878), 2019-05, Vol.142 (5), p.e20-e20

2019

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The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

American journal of human genetics, 2009-05, Vol.84 (5), p.594-604

2009

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Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

A de novo C19orf12 heterozygous mutation in a patient with MPAN

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

Glycogen storage disease type III: A novel Agl knockout mouse model

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

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