Literature DB >> 19350291

A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.

S Ajroud-Driss1, F Fecto, K Ajroud, Y Yang, S Donkervoort, N Siddique, T Siddique.   

Abstract

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Year:  2009        PMID： 19350291     DOI： 10.1007/s10048-009-0188-y

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  10 in total

1.  CMT with pyramidal features. Charcot-Marie-Tooth.

Authors:  S Vucic; M Kennerson; D Zhu; E Miedema; C Kok; G A Nicholson
Journal:  Neurology       Date:  2003-02-25       Impact factor: 9.910

2.  Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Stephan Züchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret A Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery M Vance; Esra Battologlu
Journal:  Nat Genet       Date:  2004-04-04       Impact factor: 38.330

3.  Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

Authors:  Michaela Auer-Grumbach; Beate Schlotter-Weigel; Hanns Lochmüller; Gertrud Strobl-Wildemann; Piet Auer-Grumbach; Renate Fischer; Hans Offenbacher; Ernst Bernhard Zwick; Tanja Robl; Gerald Hartl; Hans-Peter Hartung; Klaus Wagner; Christian Windpassinger
Journal:  Ann Neurol       Date:  2005-03       Impact factor: 10.422

4.  Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

Authors:  D Zhu; M L Kennerson; G Walizada; S Züchner; J M Vance; G A Nicholson
Journal:  Neurology       Date:  2005-08-09       Impact factor: 9.910

5.  Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Authors:  Stephan Züchner; Peter De Jonghe; Albena Jordanova; Kristl G Claeys; Velina Guergueltcheva; Sylvia Cherninkova; Steven R Hamilton; Greg Van Stavern; Karen M Krajewski; Jeffery Stajich; Ivajlo Tournev; Kristien Verhoeven; Christine T Langerhorst; Marianne de Visser; Frank Baas; Thomas Bird; Vincent Timmerman; Michael Shy; Jeffery M Vance
Journal:  Ann Neurol       Date:  2006-02       Impact factor: 10.422

6.  Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

Authors:  K W Chung; S B Kim; K D Park; K G Choi; J H Lee; H W Eun; J S Suh; J H Hwang; W K Kim; B C Seo; S H Kim; I H Son; S M Kim; I N Sunwoo; B O Choi
Journal:  Brain       Date:  2006-07-10       Impact factor: 13.501

7.  Peroneal muscular atrophy with pyramidal features.

Authors:  A E Harding; P K Thomas
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-02       Impact factor: 10.154

8.  Autosomal dominant juvenile amyotrophic lateral sclerosis.

Authors:  B A Rabin; J W Griffin; B J Crain; M Scavina; P F Chance; D R Cornblath
Journal:  Brain       Date:  1999-08       Impact factor: 13.501

9.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06

10.  Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.

Authors:  R Del Bo; F Locatelli; S Corti; M Scarlato; S Ghezzi; A Prelle; G Fagiolari; M Moggio; M Carpo; N Bresolin; G P Comi
Journal:  Neurology       Date:  2006-03-14       Impact factor: 9.910
  10 in total
  5 in total

Review 1.  Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.

Authors:  Senda Ajroud-Driss; Han-Xiang Deng; Teepu Siddique
Journal:  Curr Neurol Neurosci Rep       Date:  2011-06       Impact factor: 5.081

2.  Acute optic neuropathy associated with a novel MFN2 mutation.

Authors:  Luca Leonardi; Christian Marcotulli; Eugenia Storti; Alessandra Tessa; Mariano Serrao; Vincenzo Parisi; F M Santorelli; Francesco Pierelli; Carlo Casali
Journal:  J Neurol       Date:  2015-05-10       Impact factor: 4.849

3.  Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Authors:  Menelaos Pipis; Shawna M E Feely; James M Polke; Mariola Skorupinska; Laura Perez; Rosemary R Shy; Matilde Laura; Jasper M Morrow; Isabella Moroni; Chiara Pisciotta; Franco Taroni; Dragan Vujovic; Thomas E Lloyd; Gyula Acsadi; Sabrina W Yum; Richard A Lewis; Richard S Finkel; David N Herrmann; John W Day; Jun Li; Mario Saporta; Reza Sadjadi; David Walk; Joshua Burns; Francesco Muntoni; Sindhu Ramchandren; Rita Horvath; Nicholas E Johnson; Stephan Züchner; Davide Pareyson; Steven S Scherer; Alexander M Rossor; Michael E Shy; Mary M Reilly
Journal:  Brain       Date:  2020-12-01       Impact factor: 13.501

Review 4.  The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology.

Authors:  Mashiat Zaman; Timothy E Shutt
Journal:  Front Cell Dev Biol       Date:  2022-03-24

5.  Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.

Authors:  Małgorzata Beręsewicz; Łukasz Charzewski; Krystiana A Krzyśko; Andrzej Kochański; Barbara Zabłocka
Journal:  Sci Rep       Date:  2018-11-15       Impact factor: 4.379
  5 in total

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