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

By Papasozomenos S.C.  

Brain, Vol. 126, Iss. 3, 2003-03 ,pp. : 590-597

Oxford University Press

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Late onset autosomal dominant Charcot–Marie–Tooth 2 neuropathy in a Costa Rican family

By Berghoff Corinna   Berghoff Martin   Leal Alejandro   Morera Bernal   Contreras Carlos   Barrantes Ramiro   Rautenstrauss Bernd   Del Valle Gerardo   Heuss Dieter  

Neurological Research, Vol. 31, Iss. 3, 2009-04 ,pp. : 283-288

Maney Publishing

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

By Claeys Kristl G.  

Brain, Vol. 132, Iss. 7, 2009-07 ,pp. : 1741-1752

Oxford University Press

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

By Verhoeven Kristien   Claeys Kristl G.   Schröder J. Michael   Weis Joachim   Ceuterick Chantal   Jordanova Albena   Nelis Eva   De Vriendt Els   Van Hul Matthias   Seeman Pavel   Mazanec Radim   Saifi Gulam Mustafa   Szigeti Kinga   Mancias Pedro   Butler Ian J.   Kochanski Andrzej   Ryniewicz Barbara   De Bleecker Jan   Van den Bergh Peter   Verellen Christine   Van Coster Rudy   Goemans Nathalie   Auer-Grumbach Michaela   Robberecht Wim   Milic Rasic Vedrana   Nevo Yoram   Tournev Ivajlo   Guergueltcheva Velina   Roelens Filip   Vieregge Peter   Vinci Paolo   Moreno Maria Teresa   Christen H.-J.   Shy Michael E.   Lupski James R.   Vance Jeffery M.   De Jonghe Peter   Timmerman Vincent  

Brain, Vol. 129, Iss. 8, 2006-08 ,pp. : 2093-2102

Oxford University Press

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Expression of mitofusin 2R94Q in a transgenic mouse leads to CharcotMarieTooth neuropathy type 2A

By Cartoni Romain  

Brain, Vol. 133, Iss. 5, 2010-05 ,pp. : 1460-1469

Oxford University Press

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