Literature DB >> 29546603

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.

Vittorio Mantero1, Sabrina Lucchiari2, Roberto Balgera3, Giacomo P Comi2, Andrea Salmaggi3, Andrea Rigamonti3.   

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Year:  2018        PMID： 29546603     DOI： 10.1007/s10072-018-3311-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  7 in total

1.  The skeletal muscle chloride channel in dominant and recessive human myotonia.

Authors:  M C Koch; K Steinmeyer; C Lorenz; K Ricker; F Wolf; M Otto; B Zoll; F Lehmann-Horn; K H Grzeschik; T J Jentsch
Journal:  Science       Date:  1992-08-07       Impact factor: 47.728

2.  Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.

Authors:  E Plassart-Schiess; A Gervais; B Eymard; A Lagueny; J Pouget; J M Warter; M Fardeau; T J Jentsch; B Fontaine
Journal:  Neurology       Date:  1998-04       Impact factor: 9.910

3.  Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.

Authors:  J Esteban; A M Neumeyer; D McKenna-Yasek; R H Brown
Journal:  Neurogenetics       Date:  1998-03       Impact factor: 2.660

Review 4.  Phenotypic variability in myotonia congenita.

Authors:  Eskild Colding-Jørgensen
Journal:  Muscle Nerve       Date:  2005-07       Impact factor: 3.217

5.  A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.

Authors:  C Fahlke; C L Beck; A L George
Journal:  Proc Natl Acad Sci U S A       Date:  1997-03-18       Impact factor: 11.205

Review 6.  The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Authors:  E Matthews; D Fialho; S V Tan; S L Venance; S C Cannon; D Sternberg; B Fontaine; A A Amato; R J Barohn; R C Griggs; M G Hanna
Journal:  Brain       Date:  2009-11-16       Impact factor: 13.501

7.  Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.

Authors:  S Lucchiari; G Ulzi; F Magri; M Bucchia; F Corbetta; M Servida; M Moggio; G P Comi; M Lecchi
Journal:  J Physiol Pharmacol       Date:  2013-10       Impact factor: 3.011
  7 in total
  1 in total

1.  Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.

Authors:  Jun-Hui Yuan; Yujiro Higuchi; Akihiro Hashiguchi; Masahiro Ando; Akiko Yoshimura; Tomonori Nakamura; Yusuke Sakiyama; Hiroshi Takashima
Journal:  J Neurol       Date:  2022-07-30       Impact factor: 6.682
  1 in total

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