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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. WeExpand
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The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with Charcot-Marie-Tooth disease type 2A and autosomalExpand
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Neurologic features and genotype‐phenotype correlation in Wolfram syndrome
Wolfram syndrome (WS) is a rare neurodegenerative disorder characterized by juvenile‐onset diabetes mellitus and optic atrophy. Our aim was to describe the nature and the frequency of the neurologicExpand
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Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
Sir, A recent study by Bannwarth and colleagues has shown that variation in the CHCHD10 gene is a cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (BannwarthExpand
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Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4,Expand
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Detection of the TMPRSS2-ETS fusion gene in prostate carcinomas: retrospective analysis of 55 formalin-fixed and paraffin-embedded samples with clinical data.
The recent identification of fusion genes involving ETS family members in human prostate adenocarcinoma has confirmed the hypothesis that recurrent specific aberrations such as fusion genes may be asExpand
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Large-volume leukapheresis procedure for peripheral blood progenitor cell collection in children weighing 15 kg or less: efficacy and safety evaluation.
BACKGROUND We update our experience on large-volume leukapheresis (LVL) in very small patients with malignancies. LVLs were performed with the aim of reducing the psychological impact ofExpand
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A novel homozygous MMP2 mutation in a family with Winchester syndrome
The 2001 International Classification of Constitutional Disorders of Bone has included in the group of multicentric hands and feet osteolysis syndromes three autosomal recessive inherited disorders:Expand
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Extragestational βHCG secretion due to an isolated lung epithelioid trophoblastic tumor: microsatellite genotyping of tumoral cells confirmed their placental origin and oriented specific chemotherapy.
CONTEXT Persistent secretion of β-human chorionic gonadotropin (βHCG) in the absence of an ongoing or recent pregnancy and without persistent uterine gestational disease is a rare but challengingExpand
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