Literature DB >> 24122059

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Lorenzo Maggi1, R Brugnoni, V Scaioli, T L Winden, L Morandi, A G Engel, R Mantegazza, P Bernasconi.   

Abstract

Entities:  

Year:  2013        PMID： 24122059      PMCID： PMC3984612          DOI： 10.1007/s00415-013-7118-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

1.  Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

Authors:  V Mihaylova; M A M Salih; M M Mukhtar; H A Abuzeid; S M El-Sadig; M von der Hagen; A Huebner; G Nürnberg; A Abicht; J S Müller; H Lochmüller; V Guergueltcheva
Journal:  Neurology       Date:  2009-12-01       Impact factor: 9.910

Review 2.  Current status of the congenital myasthenic syndromes.

Authors:  Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2011-11-21       Impact factor: 4.296

3.  MUSK, a new target for mutations causing congenital myasthenic syndrome.

Authors:  Frédéric Chevessier; Brice Faraut; Aymeric Ravel-Chapuis; Pascale Richard; Karen Gaudon; Stéphanie Bauché; Cassandra Prioleau; Ruth Herbst; Evelyne Goillot; Christine Ioos; Jean-Philippe Azulay; Shahram Attarian; Jean-Paul Leroy; Emmanuel Fournier; Claire Legay; Laurent Schaeffer; Jeanine Koenig; Michel Fardeau; Bruno Eymard; Jean Pouget; Daniel Hantaï
Journal:  Hum Mol Genet       Date:  2004-10-20       Impact factor: 6.150

4.  Management challenges in muscle-specific tyrosine kinase myasthenia gravis.

Authors:  Amelia Evoli; Paolo E Alboini; Ana Bisonni; Alessia Mastrorosa; Emanuela Bartoccioni; Emanuela Bartocccioni
Journal:  Ann N Y Acad Sci       Date:  2012-12       Impact factor: 5.691

5.  Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Authors:  Ricardo A Maselli; Juan Arredondo; Orla Cagney; Jarae J Ng; Jennifer A Anderson; Colette Williams; Bae J Gerke; Betty Soliven; Robert L Wollmann
Journal:  Hum Mol Genet       Date:  2010-04-06       Impact factor: 6.150

6.  A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Authors:  Asma Ben Ammar; Payam Soltanzadeh; Stéphanie Bauché; Pascale Richard; Evelyne Goillot; Ruth Herbst; Karen Gaudon; Caroline Huzé; Laurent Schaeffer; Yuji Yamanashi; Osamu Higuchi; Antoine Taly; Jeanine Koenig; Jean-Paul Leroy; Fayçal Hentati; Hossein Najmabadi; Kimia Kahrizi; Manouchehr Ilkhani; Michel Fardeau; Bruno Eymard; Daniel Hantaï
Journal:  PLoS One       Date:  2013-01-09       Impact factor: 3.240
  6 in total
  5 in total

1.  Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

Authors:  Chaya Murali; Dong Li; Katheryn Grand; Hakon Hakonarson; Elizabeth Bhoj
Journal:  Am J Med Genet A       Date:  2019-02-04       Impact factor: 2.802

2.  Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene.

Authors:  Anna Ardissone; Isabella Moroni; Pia Bernasconi; Raffaella Brugnoni
Journal:  Acta Myol       Date:  2017-03

3.  Congenital myasthenic syndromes.

Authors:  Josef Finsterer
Journal:  Orphanet J Rare Dis       Date:  2019-02-26       Impact factor: 4.123

4.  Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK-Congenital Myasthenic Syndrome.

Authors:  Marcus V Pinto; Jacqui-Lyn Saw; Margherita Milone
Journal:  Front Neurol       Date:  2019-12-20       Impact factor: 4.003

5.  Precise A•T to G•C base editing in the zebrafish genome.

Authors:  Wei Qin; Xiaochan Lu; Yunxing Liu; Haipeng Bai; Song Li; Shuo Lin
Journal:  BMC Biol       Date:  2018-11-20       Impact factor: 7.431
  5 in total

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