(Q24618174)

English

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

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scholarly article

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Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation (English)

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spinocerebellar ataxia

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Yoshinori Tsurusaki

object named as

Yoshinori Tsurusaki

9

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Hirotomo Saitsu

object named as

Hirotomo Saitsu

11

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Mitsunori Fukuda

object named as

Mitsunori Fukuda

4

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author name string

Hiroshi Doi

1

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Kunihiro Yoshida

2

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Takao Yasuda

3

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Yoko Fukuda

5

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Hiroshi Morita

6

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Shu-ichi Ikeda

7

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Rumiko Kato

8

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Noriko Miyake

10

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Haruya Sakai

12

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Satoko Miyatake

13

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Masaaki Shiina

14

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Nobuyuki Nukina

15

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Shigeru Koyano

16

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Shoji Tsuji

17

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Yoshiyuki Kuroiwa

18

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Naomichi Matsumoto

19

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language of work or name

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publication date

12 August 2011

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American Journal of Human Genetics

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89

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2

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320-7

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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

1 reference

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The diversity of calcium sensor proteins in the regulation of neuronal function

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Mapping short DNA sequencing reads and calling variants using mapping quality scores

1 reference

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7 April 2017

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

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7 April 2017

Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans

1 reference

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Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity

1 reference

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Phospholipid composition dependence of Ca2+-dependent phospholipid binding to the C2A domain of synaptotagmin IV

1 reference

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7 April 2017

Analysis of the synaptotagmin family during reconstituted membrane fusion. Uncovering a class of inhibitory isoforms

1 reference

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Quality control in the endoplasmic reticulum

1 reference

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Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

1 reference

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27 September 2017

Neuropeptide exocytosis involving synaptotagmin-4 and oxytocin in hypothalamic programming of body weight and energy balance

1 reference

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Endoplasmic reticulum stress and lipid dysregulation

1 reference

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27 September 2017

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

1 reference

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27 September 2017

Autosomal recessive ataxias: 20 types, and counting

1 reference

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27 September 2017

Synaptotagmins in neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

27 September 2017

Isolation of subcellular organelles and structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

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Generating linkage mapping files from Affymetrix SNP chip data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

27 September 2017

Cerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

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How does synaptotagmin trigger neurotransmitter release?

1 reference

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27 September 2017

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

27 September 2017

Autosomal recessive cerebellar ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

27 September 2017

Scale for the assessment and rating of ataxia: development of a new clinical scale

1 reference

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27 September 2017

Identification of ubiquitin-interacting proteins in purified polyglutamine aggregates

1 reference

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27 September 2017

Synaptotagmins are trafficked to distinct subcellular domains including the postsynaptic compartment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

27 September 2017

The C2 domains of synaptotagmin--partners in exocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

27 September 2017

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

30 May 2018

Comparative analysis of tandem C2 domains from the mammalian synaptotagmin family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

30 May 2018

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

28 November 2018

Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

28 November 2018

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

28 November 2018

Sodium channel beta4 subunit: down-regulation and possible involvement in neuritic degeneration in Huntington's disease transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

28 November 2018

Allegro version 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155161

28 November 2018

Identifiers

10.1016/J.AJHG.2011.07.012

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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