Altered TDP-43-dependent splicing in HSPB8 -related distal hereditary motor neuropathy and myofibrillar myopathy-Reference-Cited by-同舟云学术

Altered TDP-43-dependent splicing in HSPB8 -related distal hereditary motor neuropathy and myofibrillar myopathy

Published:2017-12-02 Issue:1 Volume:25 Page:154-163
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Cortese A.¹²^ORCID,Laurà M.²,Casali C.³,Nishino I.⁴,Hayashi Y. K.⁵,Magri S.⁶,Taroni F.⁶,Stuani C.⁷,Saveri P.⁶,Moggio M.⁸,Ripolone M.⁸,Prelle A.⁹,Pisciotta C.⁶,Sagnelli A.⁶,Pichiecchio A.¹,Reilly M. M.²,Buratti E.⁷,Pareyson D.⁶

Affiliation:

1. C. Mondino National Neurological Institute Foundation; IRCCS; Pavia Italy

2. MRC Centre for Neuromuscular Diseases; UCL Institute of Neurology; London UK

3. Department of Medical and Surgical Sciences and Biotechnologies; Sapienza University of Rome; Latina Italy

4. Department of Neuromuscular Research; National Center of Neurology and Psychiatry; National Institute of Neuroscience; Tokyo Japan

5. Department of Pathophysiology; Tokyo Medical University; Tokyo Japan

6. Unit of Rare Neurodegenerative and Neurometabolic Diseases; IRCCS Foundation; C. Besta Neurological Institute; Milan Italy

7. International Centre for Genetic Engineering and Biotechnology (ICGEB); Trieste Italy

8. Neuromuscular and Rare Diseases Unit; Department of Neuroscience; Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico; Milan Italy

9. Department of Neurology; Ospedale Maggiore; Crema Italy

Funder

Telethon Italy and the Eurobiobank Network

Research on Rare and Intractable Diseases, Health and Labor Science Research Grants

Intramural Research Grant for Neurological and Psychiatric Disorders of National Center of Neurology and Psychiatry (NCNP)

National Institute for Health Research

University College London

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13478/fullpdf

Reference39 articles.

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3. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy;Ghaoui;Neurology,2016

4. HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy;Echaniz-Laguna;Acta Neuropathol,2017

5. Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy;Ripolone;JAMA Neurol,2015

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