Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

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Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.

P2860

Q28387241-0ABC133C-91DD-45BE-821F-2B5E63BB03F9 Q50067048-58763013-72C0-4506-B547-E93ADD7D8CE6

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Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

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http://www.wikidata.org/entity/Q37741094

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2014 nî lūn-bûn

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Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

@en

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

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type

Item

label

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

@en

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

@nl

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Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

@en

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

@nl

P1476

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

@en

P2093

Fumiaki Tanaka

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Hiroshi Doi

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Katsuko Tani

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Kazuhiro Ogata

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Kunihiro Yoshida

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Masaaki Shiina

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Masao Ushiyama

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Mitsuko Nakashima

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Naomichi Matsumoto

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Noriko Miyake

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Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.

Generating linkage mapping files from Affymetrix SNP chip data.

Reviewing the genetic causes of spastic-ataxias.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

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srep07132

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7132

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scholarly article

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10.1038/SREP07132

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English

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Yoshinori Tsurusaki

Hirotomo Saitsu

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2014-11-24T00:00:00Z

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268797203

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25417924

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5384088

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Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

about

P2860

P2860

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P478

P50

P577

P5875

P698

P932