Literature DB >> 26670295

Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy.

Corrado Angelini1.   

Abstract

Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy. The technique has a dual role as a tool for diagnosis and discovery in genetically heterogeneous neuromuscular diseases.

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Year:  2015        PMID： 26670295     DOI： 10.1038/nrneurol.2015.230

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  9 in total

1.  Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.

Authors:  M Fanin; A C Nascimbeni; S Aurino; E Tasca; E Pegoraro; V Nigro; C Angelini
Journal:  Neurology       Date:  2009-04-21       Impact factor: 9.910

2.  Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Pushpa Narayanaswami; Michael Weiss; Duygu Selcen; William David; Elizabeth Raynor; Gregory Carter; Matthew Wicklund; Richard J Barohn; Erik Ensrud; Robert C Griggs; Gary Gronseth; Anthony A Amato
Journal:  Neurology       Date:  2014-10-14       Impact factor: 9.910

3.  Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Authors:  Roula Ghaoui; Sandra T Cooper; Monkol Lek; Kristi Jones; Alastair Corbett; Stephen W Reddel; Merrilee Needham; Christina Liang; Leigh B Waddell; Garth Nicholson; Gina O'Grady; Simranpreet Kaur; Royston Ong; Mark Davis; Carolyn M Sue; Nigel G Laing; Kathryn N North; Daniel G MacArthur; Nigel F Clarke
Journal:  JAMA Neurol       Date:  2015-12       Impact factor: 18.302

4.  Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Authors:  Harriet P Lo; Sandra T Cooper; Frances J Evesson; Jane T Seto; Maria Chiotis; Valerie Tay; Alison G Compton; Anita G Cairns; Alistair Corbett; Daniel G MacArthur; Nan Yang; Katrina Reardon; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2007-09-25       Impact factor: 4.296

5.  Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients.

Authors:  Marina Fanin; Anna C Nascimbeni; Corrado Angelini
Journal:  Clin Neuropathol       Date:  2014 May-Jun       Impact factor: 1.368

6.  Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Authors:  Marco Savarese; Giuseppina Di Fruscio; Giorgio Tasca; Lucia Ruggiero; Sandra Janssens; Jan De Bleecker; Marc Delpech; Olimpia Musumeci; Antonio Toscano; Corrado Angelini; Sabrina Sacconi; Lucio Santoro; Enzo Ricci; Kathleen Claes; Luisa Politano; Vincenzo Nigro
Journal:  Neuromuscul Disord       Date:  2015-03-30       Impact factor: 4.296

Review 7.  Spectrum of metabolic myopathies.

Authors:  Corrado Angelini
Journal:  Biochim Biophys Acta       Date:  2014-07-02

8.  Dominant muscular dystrophy with a novel SYNE1 gene mutation.

Authors:  Marina Fanin; Marco Savarese; Anna C Nascimbeni; Giuseppina Di Fruscio; Ebe Pastorello; Elisabetta Tasca; Carlo P Trevisan; Vincenzo Nigro; Corrado Angelini
Journal:  Muscle Nerve       Date:  2014-11-24       Impact factor: 3.217

9.  Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Authors:  Annalaura Torella; Marina Fanin; Margherita Mutarelli; Enrico Peterle; Francesca Del Vecchio Blanco; Rossella Rispoli; Marco Savarese; Arcomaria Garofalo; Giulio Piluso; Lucia Morandi; Giulia Ricci; Gabriele Siciliano; Corrado Angelini; Vincenzo Nigro
Journal:  PLoS One       Date:  2013-05-07       Impact factor: 3.240
  9 in total

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