Literature DB >> 12536154

Genetic neuromuscular disease.

Mary M Reilly1, Michael G Hanna.   

Abstract

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Year:  2002        PMID： 12536154      PMCID： PMC1765608          DOI： 10.1136/jnnp.73.suppl_2.ii12

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

Review 1.  Classification of the hereditary motor and sensory neuropathies.

Authors:  M M Reilly
Journal:  Curr Opin Neurol       Date:  2000-10       Impact factor: 5.710

2.  Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Authors:  M Brockington; Y Yuva; P Prandini; S C Brown; S Torelli; M A Benson; R Herrmann; L V Anderson; R Bashir; J M Burgunder; S Fallet; N Romero; M Fardeau; V Straub; G Storey; C Pollitt; I Richard; C A Sewry; K Bushby; T Voit; D J Blake; F Muntoni
Journal:  Hum Mol Genet       Date:  2001-12-01       Impact factor: 6.150

Review 3.  The skeletal muscle channelopathies: basic science, clinical genetics and treatment.

Authors:  N P Davies; M G Hanna
Journal:  Curr Opin Neurol       Date:  2001-10       Impact factor: 5.710

4.  Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Authors:  E Nelis; C Van Broeckhoven; P De Jonghe; A Löfgren; A Vandenberghe; P Latour; E Le Guern; A Brice; M L Mostacciuolo; F Schiavon; F Palau; S Bort; M Upadhyaya; M Rocchi; N Archidiacono; P Mandich; E Bellone; K Silander; M L Savontaus; R Navon; H Goldberg-Stern; X Estivill; V Volpini; W Friedl; A Gal
Journal:  Eur J Hum Genet       Date:  1996       Impact factor: 4.246

5.  Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; P De Jonghe; J E Hoogendijk; F Baas; D F Barker; J J Martin; M De Visser; P A Bolhuis
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296
  5 in total
  6 in total

1.  Evaluating muscle symptoms.

Authors:  Richard Petty
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-06       Impact factor: 10.154

2.  Clinical evaluation and investigation of neuropathy.

Authors:  Hugh J Willison; John B Winer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-06       Impact factor: 10.154

Review 3.  Neurology and orthopaedics.

Authors:  Henry Houlden; Paul Charlton; Dishan Singh
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-03       Impact factor: 10.154

Review 4.  Correction of muscular dystrophies by CRISPR gene editing.

Authors:  Francesco Chemello; Rhonda Bassel-Duby; Eric N Olson
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808

5.  Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia.

Authors:  Camiel Verhamme; Ivo N van Schaik; Johannes H T M Koelman; Rob J de Haan; Marinus Vermeulen; Marianne de Visser
Journal:  J Neurol       Date:  2004-12       Impact factor: 4.849

6.  The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Authors:  Marco Savarese; Giuseppina Di Fruscio; Annalaura Torella; Chiara Fiorillo; Francesca Magri; Marina Fanin; Lucia Ruggiero; Giulia Ricci; Guja Astrea; Luigia Passamano; Alessandra Ruggieri; Dario Ronchi; Giorgio Tasca; Adele D'Amico; Sandra Janssens; Olimpia Farina; Margherita Mutarelli; Veer Singh Marwah; Arcomaria Garofalo; Teresa Giugliano; Simone Sampaolo; Francesca Del Vecchio Blanco; Gaia Esposito; Giulio Piluso; Paola D'Ambrosio; Roberta Petillo; Olimpia Musumeci; Carmelo Rodolico; Sonia Messina; Anni Evilä; Peter Hackman; Massimiliano Filosto; Giuseppe Di Iorio; Gabriele Siciliano; Marina Mora; Lorenzo Maggi; Carlo Minetti; Sabrina Sacconi; Lucio Santoro; Kathleen Claes; Liliana Vercelli; Tiziana Mongini; Enzo Ricci; Francesca Gualandi; Rossella Tupler; Jan De Bleecker; Bjarne Udd; Antonio Toscano; Maurizio Moggio; Elena Pegoraro; Enrico Bertini; Eugenio Mercuri; Corrado Angelini; Filippo Maria Santorelli; Luisa Politano; Claudio Bruno; Giacomo Pietro Comi; Vincenzo Nigro
Journal:  Neurology       Date:  2016-06-08       Impact factor: 9.910
  6 in total

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