An in-frame deletion in BICD2 associated with a non-progressive form of SMALED-Reference-Cited by-同舟云学术

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

Published:2018-03 Issue: Volume:166 Page:1-3
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Trimouille Aurélien,Obre Émilie,Banneau Guillaume,Durr Alexandra,Stevanin Giovanni,Clot Fabienne,Pennamen Perrine,Perez Jean-Thomas,Bailly-Scappaticci Clémence,Rouanet Marie,Delleci Claire,Sole Guilhem,Mathis Stéphane,Goizet Cyril

Funder

Agence Nationale de la Recherche (“Spatax Quest”, to GS)

7th European Framework programme (Neuromics, to AD)

IHU-Investissements d’avenir (to the ICM institute)

Verum Foundation (to GS)

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Surgery

Reference5 articles.

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2. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features;Storbeck;Eur. J. Hum. Genet.,2017

3. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia;Oates;Am. J. Hum. Genet.,2013

4. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2;Rossor;Brain,2015

5. Disease-associated mutations in human BICD2 hyperactivate motility of dynein–dynactin;Huynh;J. Cell Biol.,2017

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3. Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders;PLOS Genetics;2023-03-17

4. Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant;Brain and Development;2022-09

5. SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype;Neuromuscular Disorders;2020-08