Literature DB >> 25695962

Two cases of congenital myasthenic syndrome with vocal cord paralysis.

Rashid Al-Shahoumi1, Lauren I Brady1, Jeremy Schwartzentruber1, Mark A Tarnopolsky2.   

Abstract

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Year:  2015        PMID： 25695962      PMCID： PMC4366090          DOI： 10.1212/WNL.0000000000001396

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

Review 1.  Vocal cord paralysis in infants and children.

Authors:  A L de Jong; R B Kuppersmith; M Sulek; E M Friedman
Journal:  Otolaryngol Clin North Am       Date:  2000-02       Impact factor: 3.346

2.  Neuromuscular disorders presenting as congenital bilateral vocal cord paralysis.

Authors:  J F Lapeña; R G Berkowitz
Journal:  Ann Otol Rhinol Laryngol       Date:  2001-10       Impact factor: 1.547

Review 3.  The congenital myasthenic syndromes.

Authors:  Jackie Palace; David Beeson
Journal:  J Neuroimmunol       Date:  2008-08-15       Impact factor: 3.478

4.  CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

Authors:  D-H Chen; Y Sul; M Weiss; A Hillel; H Lipe; J Wolff; M Matsushita; W Raskind; T Bird
Journal:  Neurology       Date:  2010-11-30       Impact factor: 9.910

5.  Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.

Authors:  Chris G Jephson; Nikki A Mills; Matthew C Pitt; David Beeson; Annie Aloysius; Francesco Muntoni; Stephanie A Robb; C Martin Bailey
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2010-06-15       Impact factor: 1.675

6.  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

7.  Congenital bilateral vocal fold paralysis and Charcot-Marie-Tooth disease.

Authors:  Andrea F Lewis; Jeffrey D Carron; Vetta Vedanarayanan
Journal:  Ann Otol Rhinol Laryngol       Date:  2010-01       Impact factor: 1.547
  7 in total
  7 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.  Adult-onset vocal cord paralysis in slow-channel congenital myasthenic syndrome.

Authors:  Haruko Nakamura; Hiroyasu Komiya; Eri Uematsu; Yoshiharu Nakae; Kenichi Tanaka; Misako Kunii; Mikiko Tada; Hideto Joki; Shigeru Koyano; Naomichi Matsumoto; Hiroshi Doi; Hideyuki Takeuchi; Fumiaki Tanaka
Journal:  Neurol Clin Pract       Date:  2019-10

3.  COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.

Authors:  Mohammad A Al-Muhaizea; Sulaiman Bazee Al-Mobarak
Journal:  Transl Neurosci       Date:  2017-07-20       Impact factor: 1.757

4.  Congenital myasthenic syndromes.

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

5.  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

6.  The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

Authors:  Nicola Laforgia; Lucrezia De Cosmo; Orazio Palumbo; Carlotta Ranieri; Michela Sesta; Donatella Capodiferro; Antonino Pantaleo; Pierluigi Iapicca; Patrizia Lastella; Manuela Capozza; Federico Schettini; Nenad Bukvic; Rosanna Bagnulo; Nicoletta Resta
Journal:  Genes (Basel)       Date:  2020-12-18       Impact factor: 4.096

Review 7.  Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.

Authors:  Youssef El Kadiri; Ilham Ratbi; Abdelaziz Sefiani; Jaber Lyahyai
Journal:  BMC Neurol       Date:  2022-08-05       Impact factor: 2.903
  7 in total

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