Literature DB >> 23412702

Considerable post-partum worsening in a patient with CMT2E.

Luca Gentile1, Federica Taioli, Gian Maria Fabrizi, Massimo Russo, Claudia Stancanelli, Anna Mazzeo.   

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Year:  2013        PMID： 23412702     DOI： 10.1007/s10072-013-1296-x

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


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  8 in total

1.  Exacerbation of Charcot-Marie-tooth disease in pregnancy.

Authors:  M Pollock; H Nukada; M Kritchevsky
Journal:  Neurology       Date:  1982-11       Impact factor: 9.910

2.  The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

Authors:  Stephan Züchner; Matthias Vorgerd; Eckhart Sindern; J Michael Schröder
Journal:  Neuromuscul Disord       Date:  2004-02       Impact factor: 4.296

3.  Coexistent hereditary and inflammatory neuropathy.

Authors:  Lionel Ginsberg; Omar Malik; Anthony R Kenton; David Sharp; John R Muddle; Mary B Davis; John B Winer; Richard W Orrell; Rosalind H M King
Journal:  Brain       Date:  2003-11-07       Impact factor: 13.501

4.  Pregnancy and delivery in Charcot-Marie-Tooth disease type 1.

Authors:  S Rudnik-Schöneborn; D Röhrig; G Nicholson; K Zerres
Journal:  Neurology       Date:  1993-10       Impact factor: 9.910

5.  Inflammatory demyelination in a patient with CMT1A.

Authors:  Anne Vital; Claude Vital; Alain Lagueny; Xavier Ferrer; Catherine Ribière-Bachelier; Philippe Latour; Klaus G Petry
Journal:  Muscle Nerve       Date:  2003-09       Impact factor: 3.217

6.  Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Authors:  A Jordanova; P De Jonghe; C F Boerkoel; H Takashima; E De Vriendt; C Ceuterick; J-J Martin; I J Butler; P Mancias; S Ch Papasozomenos; D Terespolsky; L Potocki; C W Brown; M Shy; D A Rita; I Tournev; I Kremensky; J R Lupski; V Timmerman
Journal:  Brain       Date:  2003-03       Impact factor: 13.501

7.  A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Authors:  Sabrina W Yum; Junxian Zhang; Katie Mo; Jian Li; Steven S Scherer
Journal:  Ann Neurol       Date:  2009-12       Impact factor: 10.422

8.  Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

Authors:  Gian Maria Fabrizi; Tiziana Cavallaro; Chiara Angiari; Ilaria Cabrini; Federica Taioli; Giovanni Malerba; Laura Bertolasi; Nicoló Rizzuto
Journal:  Brain       Date:  2006-10-18       Impact factor: 13.501
  8 in total
  1 in total

1.  NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

Authors:  José Berciano; Kristien Peeters; Antonio García; Tomás López-Alburquerque; Elena Gallardo; Arantxa Hernández-Fabián; Ana L Pelayo-Negro; Els De Vriendt; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2015-12-08       Impact factor: 4.849
  1 in total

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