A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

Author： Kleopa Kleopas Georgiou Domna-Maria Nicolaou Paschalis Koutsou Pantelitsa Papathanasiou Eleftherios Kyriakides Theodoros Christodoulou Kyproula

Publisher： Springer Publishing Company

ISSN： 1364-6745

Source： Neurogenetics, Vol.5, Iss.3, 2004-09, pp. : 171-175

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation

By Lenssen PPA Gabreëls-Festen AAWM Valentijn LJ Jongen PJH van Beersum SEC van Engelen BGM van Wensen PJM Bolhuis PA Gabreëls FJM Mariman ECM

Brain, Vol. 121, Iss. 8, 1998-08 ,pp. : 1451-1458

Oxford University Press

Access to resources Recommend Favorite

A Transgenic Mouse Model for Human Hereditary Neuropathy with Liability to Pressure Palsies

By Maycox P.R. Ortuno D. Burrola P. Kuhn R. Bieri P.L. Arrezo J.C. Lemke G.

Molecular and Cellular Neuroscience, Vol. 8, Iss. 6, 1997-06 ,pp. : 405-416

Academic Press

Access to resources Recommend Favorite

PMP22 expression in dermal nerve myelin from patients with CMT1A

By Katona Istvan

Brain, Vol. 132, Iss. 7, 2009-07 ,pp. : 1734-1740

Oxford University Press

Access to resources Recommend Favorite

PMP22 Accumulation in Aggresomes: Implications for CMT1A Pathology

By Notterpek L. Ryan M.C. Tobler A.R. Shooter E.M.

Neurobiology of Disease, Vol. 6, Iss. 5, 1999-10 ,pp. : 450-460

Academic Press

Access to resources Recommend Favorite

Inherited Focal, Episodic Neuropathies: Hereditary Neuropathy With Liability to Pressure Palsies and Hereditary Neuralgic Amyotrophy

NeuroMolecular Medicine, Vol. 8, Iss. 1-2, 2006-03 ,pp. : 159-174

Humana Press, Inc

Access to resources Recommend Favorite