Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study-Reference-Cited by-同舟云学术

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Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study

Published:2013-05 Issue:5 Volume:23 Page:427-431
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Masciullo M.,Iannaccone E.,Bianchi M.L.E.,Santoro M.,Conte G.,Modoni A.,Monforte M.,Tasca G.,Laschena F.,Ricci E.,Silvestri G.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Myotonic dystrophy;Harper,2001

2. Myotonic dystrophy types 1 and 2;Ashizawa;Handb Clin Neurol,2011

3. Padberg GW, Facioscapulohumeral disease [thesis]. Leiden University, Leiden, the Netherlands, 1982.

4. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy;Wijmenga;Nat Genet,1992

5. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype;Ricci;Ann Neurol,1999

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3. Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines;Clinical Genetics;2024-04-29

4. A case of spastic paraplegia with SPG4 and SPG3 associated mutations;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2023

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