Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene-Reference-Cited by-同舟云学术

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Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Published:2016-03-19 Issue:1 Volume:16 Page:262-267
ISSN:1473-4222
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Wiethoff Sarah,Bettencourt Conceição,Paudel Reema,Madon Prochi,Liu Yo-Tsen,Hersheson Joshua,Wadia Noshir,Desai Joy,Houlden Henry

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s12311-016-0769-x.pdf

Reference17 articles.

1. Jayadev S, Bird TD. Hereditary ataxias: overview. Genet Med. 2013;15(9):673–83.

2. Mancuso M, Orsucci D, Siciliano G, Bonuccelli U. The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne’s thread. J Neurol. 2014;261 Suppl 2:S528–41.

3. Coutelier M, Stevanin G, Brice A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. J Neurol. 2015.

4. Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, et al. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet. 2008;82(3):780–5.

5. Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. 2014;137(Pt 1):69–77.

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1. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13

2. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia;Molecular Biology Reports;2024-04-29

3. Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle;Movement Disorders Clinical Practice;2023-07-17

4. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders;2023-06-11

5. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism;The Cerebellum;2023-05-08

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