Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.

P2860

Q47190201-97549BC1-D198-4AC3-8C15-2F89CC8C6A1D

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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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http://www.wikidata.org/entity/Q35964804

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

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2016年論文

@zh-tw

2016年论文

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2016年论文

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2016年论文

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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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Item

label

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

@ast

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

@ast

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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P1476

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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P2093

Bjarne Udd

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Johanna Palmio

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Manu Jokela

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Mikaela Lindfors

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Olayinka Raheem

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Sini Penttilä

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P2860

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes.

Late-onset spinal motor neuronopathy - a common form of dominant SMA.

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy.

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family.

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e0151376

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scholarly article

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10.1371/JOURNAL.PONE.0151376

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P407

English

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http://www.w3.org/2001/XMLSchema#string

P478

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Sanna Huovinen

P577

2016-03-21T00:00:00Z

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26999347

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P932

4801364

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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

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P2860

P2860

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932