about
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxiaErythropoietin in Friedreich ataxiaYeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridizationIdentification of 5' regulatory regions of the human carnitine palmitoyltransferase II geneTwo novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) geneAlpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathyFrontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker.Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the LiteratureFrataxin, iron-sulfur clusters, heme, ROS, and aging.Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohortConsensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Four novel cases of periaxin-related neuropathy and review of the literature.Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.CADASIL: Treatment and Management Options.The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review.Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.Novel and recurrent spastin mutations in a large series of SPG4 Italian families.A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.Somatosensory conduction pathway in spastic paraplegia type 5.A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.Pendular nystagmus in hypomyelinating leukodystrophy.Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.NMDA receptor composition differs among anatomically diverse malformations of cortical development.The neurotoxicity of mutant proteins 20 years after the discovery of the first mutant gene involved in neurodegeneration. Foreword.Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases.X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
P50
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