GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

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P1476

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy

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P2093

Henry Houlden

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Jana Vandrovcova

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Nicholas W Wood

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P2860

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

LUMPY: a probabilistic framework for structural variant discovery.

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

Mice lacking brain/kidney phosphate-activated glutaminase have impaired glutamatergic synaptic transmission, altered breathing, disorganized goal-directed behavior and die shortly after birth

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies.

Glutaminase 1 is essential for the differentiation, proliferation, and survival of human neural progenitor cells.

HomozygosityMapper--an interactive approach to homozygosity mapping.

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

P304

216-221

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P31

scholarly article

P356

10.1002/ACN3.522

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P433

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P478

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P50

Viorica Chelban

Alan Pittman

David S Lynch

P577

2018-01-22T00:00:00Z

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P698

29468182

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P932

5817843

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