✦ LIBER ✦

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

✍ Scribed by Nelis, E.; Erdem, S.; Van den Bergh, P. Y.K.; Belpaire-Dethiou, M.-C.; Ceuterick, C.; Van Gerwen, V.; Cuesta, A.; Pedrola, L.; Palau, F.; Gabreels-Festen, A. A.W.M.; Verellen, C.; Tan, E.; Demirci, M.; Van Broeckhoven, C.; De Jonghe, P.; Topaloglu, H.; Timmerman, V.

Book ID: 125452325
Publisher: Lippincott Williams and Wilkins
Year: 2002
Tongue: English
Weight: 746 KB
Volume: 59
Category: Article
ISSN: 0028-3878
DOI: 10.1212/01.wnl.0000036272.36047.54

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

GDAP1 mutation in autosomal recessive Ch

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

✍ Roberta Biancheri; Federico Zara; Pasquale Striano; Marina Pedemonte; Denise Cas 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 52 KB

A novel autosomal dominant GDAP1 mutatio

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family

✍ Fiore Manganelli; Chiara Pisciotta; Maria Nolano; Simona Capponi; Alessandro Ger 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 778 KB

GDAP1 mutations in Czech families with e

GDAP1 mutations in Czech families with early-onset CMT

✍ L. Baránková; E. Vyhnálková; S. Züchner; R. Mazanec; I. Sakmaryová; P. Vondráček 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 112 KB

An autosomal recessive CMT family with a

An autosomal recessive CMT family with a new mutation in the NDRG1 gene

✍ Goksungur, M.T.; Okamoto, Y.; Pehlivan, D.; Matur, Z.; Akyüz, K.; Battaloglu, E. 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 64 KB

Variability of disease progression in a

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

✍ H Azzedine; M Ruberg; D Ente; C Gilardeau; S Périé; B Wechsler; A Brice; E LeGue 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 169 KB

Phenotypical features of 11 Moroccan fam

Phenotypical features of 11 Moroccan families with autosomal recessive Charcot-Marie-tooth disease associated with mutations in the gdap1 gene

✍ Dubourg, O.; Birouk, N.; Bouhouche, A.; Azzedine, H.; Benomar, A.; Belaïdi, H.; 📂 Article 📅 2007 🏛 Masson Editeur 🌐 English ⚖ 133 KB