(Q53125025)

11 May 2018

title

Three cases of Troyer syndrome in two families of Filipino descent. (English)

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11 May 2018

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2

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author name string

Shauna Butler

1

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11 May 2018

Wendy Alcaraz

3

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Laurie H Seaver

4

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David T Hsieh

5

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Luis Rohena

6

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11 May 2018

language of work or name

English

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publication date

26 April 2016

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11 May 2018

American Journal of Medical Genetics

published in

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11 May 2018

volume

170

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issue

7

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11 May 2018

page(s)

1780-1785

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11 May 2018

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37658

MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37658

A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

The role of spartin and its novel ubiquitin binding region in DALIS occurrence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Recurrent null mutation in SPG20 leads to Troyer syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Oxidative Stress in Caenorhabditis elegans: Protective Effects of Spartin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37658

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37658

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11 May 2018

PubMed ID

27112432

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11 May 2018