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but that this amount is affected more importantly by 9 weeks of age. Neurochemical measurements revealed a significant reduction of dopamine content at 5 and 9 weeks of age in the CPu whereas SNpc contents were preserved. Finally, .  et al. 0

we found that chronic L-Dopa treatment improved the motor deficits previously identified. Altogether

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Genet Med. 2019 Jun, .  et al. 0

Piard J

10.1038/s41436-018-0339-3
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Villard L, .  et al. 0

Rodriguez D

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David, .  et al. 0

Christophe; Villard

Martin";Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton;Journal of...
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Ana, .  et al. 0

Jean-Christophe; Dorboz

Pierre; Lévy
and programmed cell death. BAP31 is encoded by BCAP31 - issue: and central hypomyelination and disorganize the Golgi apparatus.;American journal of human genetics;;1537-6605 0002-9297;10.1016/j.ajhg.2013.07.023;;BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein - volume: including ER-associated degradation - pages: Laurent";Mutations in BCAP31 cause a severe X-linked phenotype with deafness.

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Genet Med. 2019 Apr, .  et al. 0

Mignot C

10.1038/s41436-018-0268-1
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Missirian C, .  et al. 0

Borges A

Lindsay S
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Nicolas, .  et al. 0

Ana; Saudou

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which together define an X-linked syndrome. In the primary fibroblasts of affected individuals, .  et al. 0

we found that BCAP31 deficiency altered ER morphology and caused a disorganization of the Golgi apparatus in a significant proportion of cells. Contrary to what has been described with transient-RNA-interference experiments

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we hypothesized that the observed phenotype was due to mutations in the same gene, .  et al. 0

and we performed exome sequencing in three affected individuals. Analysis of rare variants in genes consistent with an autosomal-recessive mode of inheritance led to identification of mutations in SLC13A5

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Hum Genet. 2018 Sep, .  et al. 0

Bramswig NC

10.1007/s00439-018-1929-5
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Molinari F, .  et al. 0

Becq H

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Agathe, .  et al. 0

Florence; Becq

we investigated functional consequences and subcellular distribution of the p.V175L mutation of Kv7.2 (Kv7.2(V175L) ) found in a patient presenting EOEE. We observed that the mutation produced a...
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revealing a devastating epileptic phenotype associated with TBC1D24 dysfunction., .  et al. 0

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, .  et al. 0

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Genet Med. 2019 Mar, .  et al. 0

Valence S

10.1038/s41436-018-0089-2
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Lacoste C, .  et al. 0

Abidi A

Isidor B
Lebrun M - issue: Ville D - volume: Marignier S - pages: Laroche C.

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Bilal, .  et al. 0

Anne; Milh

genetic studies are limited because most cases are sporadic and mendelian forms are rare. METHODS: In order to identify new genetic causes in patients presenting defects of cortical organisation
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