Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood (Q48959079)

17 February 2018

title

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood (English)

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17 February 2018

author

Yoshinori Tsurusaki

12

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17 February 2018

Hirotomo Saitsu

18

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17 February 2018

Atsuko Tomita-Katsumoto

object named as

Atsuko Tomita-Katsumoto

10

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author name string

Chihiro Ohba

1

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17 February 2018

Hitoshi Osaka

2

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Mizue Iai

3

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Sumimasa Yamashita

4

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Yume Suzuki

5

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Noriko Aida

6

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Nobuyuki Shimozawa

7

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17 February 2018

Ayumi Takamura

8

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Hiroshi Doi

9

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Kiyomi Nishiyama

11

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Mitsuko Nakashima

13

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Noriko Miyake

14

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Yoshikatsu Eto

15

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Fumiaki Tanaka

16

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17 February 2018

Naomichi Matsumoto

17

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17 February 2018

publication date

4 October 2013

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17 February 2018

published in

Neurogenetics

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17 February 2018

volume

14

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issue

3-4

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page(s)

225-232

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Differential diagnosis of cerebellar atrophy in childhood

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21 January 2018

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Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.

21 January 2018

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Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

21 January 2018

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Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

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Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

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21 January 2018

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Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

21 January 2018

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

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Rate, molecular spectrum, and consequences of human mutation

21 January 2018

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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

21 January 2018

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Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

21 January 2018

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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

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12 December 2020

Clinical utility gene card for: Joubert syndrome--update 2013.

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12 December 2020

A review of the genetic relation between migraine and epilepsy

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12 December 2020

Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays

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12 December 2020

Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment

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12 December 2020

10.1007/S10048-013-0375-8

Identifiers

DOI

1 reference

17 February 2018

release_2wsk523ouvb3vgr7idkshllfdy

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/2wsk523ouvb3vgr7idkshllfdy

24 November 2022

mapped directly with Wikidata item

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17 February 2018