Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

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Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

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http://www.wikidata.org/entity/Q49718976

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Different Cerebellar Ataxia Ph ...... tients with Recessive Ataxias.

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Different Cerebellar Ataxia Ph ...... tients with Recessive Ataxias.

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Item

label

Different Cerebellar Ataxia Ph ...... tients with Recessive Ataxias.

@en

Different Cerebellar Ataxia Ph ...... tients with Recessive Ataxias.

@nl

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Different Cerebellar Ataxia Ph ...... tients with Recessive Ataxias.

@en

Different Cerebellar Ataxia Ph ...... tients with Recessive Ataxias.

@nl

P1476

Different Cerebellar Ataxia Ph ...... tients with Recessive Ataxias.

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P2093

Cassandra Buck

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Hélio Afonso Ghizoni Teive

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Mario Teruo Sato

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Naoye Shiokawa

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Renato Puppi Munhoz

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Salmo Raskin

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Stephanie B Seminara

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P2860

Neuropathy target esterase gene mutations cause motor neuron disease

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Autosomal recessive cerebellar ataxias: the current state of affairs.

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

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s12311-017-0909-y

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380-385

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scholarly article

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10.1007/S12311-017-0909-Y

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Carlos Henrique F Camargo

Cesar Boguszewski

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2018-06-01T00:00:00Z

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1099690185

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29248984

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5970027

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