Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy-Reference-Cited by-同舟云学术

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

Published:2019-12-15 Issue:4 Volume:27 Page:709-715
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Galimberti V.¹,Tironi R.¹,Lerario A.¹^ORCID,Scali M.¹^ORCID,Del Bo R.²³,Rodolico C.⁴,Brizzi T.⁴⁵,Gibertini S.⁶,Maggi L.⁶,Mora M.⁶,Toscano A.⁴,Comi G. P.²³,Sciacco M.¹,Moggio M.¹,Peverelli L.¹

Affiliation:

1. Neuromuscular and Rare Disease Unit Department of Neuroscience Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano Italy

2. Dino Ferrari Centre Neuroscience Section Department of Pathophysiology and Transplantation (DEPT) University of Milan MilanoItaly

3. Neurology Unit IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico Milano Italy

4. Neurology and Neuromuscular Diseases Unit Department of Clinical and Experimental Medicine University of Messina Messina Italy

5. DIBIMIS University of Palermo Palermo Italy

6. Neuromuscular Diseases and Neuroimmunology Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Italy

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14131

Reference25 articles.

1. Dropped-head in recessive oculopharyngeal muscular dystrophy

2. Variability of the recessive oculopharyngeal muscular dystrophy phenotype

3. VissingJ.Oculopharingeal muscular dystrophy 2016https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=270(15 December 2018).

4. Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation

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