(Q57234082)

object named as

Sheila Unger

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Andrea Superti-Furga

object named as

Andrea Superti-Furga

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author name string

Ekkehart Lausch

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Franco Stanzial

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Gabriele Gillessen-Kaesbach

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Cristina Maria Di Stefano

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Bernhard Zabel

American Journal of Medical Genetics

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language of work or name

English

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publication date

30 September 2011

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published in

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volume

155

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issue

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page(s)

2860-2864

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cites work

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

TRPV4-pathy, a novel channelopathy affecting diverse systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34268