Giant axonal neuropathy: clinical and genetic study in six cases

Demir, ERCAN; Bomont, P; Erdem, S; Cavalier, L; Demirci, M; Kose, G; Muftuoglu, S; Cakar, An; Tan, E; Aysun, S; Topcu, M; Guicheney, P; Koenig, M; Topaloglu, H

doi:10.1136/jnnp.2003.035162

Giant axonal neuropathy: clinical and genetic study in six cases

Demir E., Bomont P., Erdem S., Cavalier L., Demirci M., Kose G., ...Daha Fazla

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, cilt.76, sa.6, ss.825-832, 2005 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 76 Sayı: 6
Basım Tarihi: 2005
Doi Numarası: 10.1136/jnnp.2003.035162
Dergi Adı: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.825-832
Gazi Üniversitesi Adresli: Hayır

Özet

Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The disease is caused by GAN gene mutations on chromosome 16q24.1.