✦ LIBER ✦

DominantGDAP1founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

✍ Scribed by Auranen, Mari; Ylikallio, Emil; Toppila, Jussi; Somer, Mirja; Kiuru-Enari, Sari; Tyynismaa, Henna

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in LRSAM1 causes axonal

✍ Engeholm, Maik; Sekler, Julia; Schöndorf, David C; Arora, Vineet; Schittenhelm, 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 323 KB

A novel LRSAM1 mutation is associated wi

✍ Nicolaou, Paschalis; Cianchetti, Carlo; Minaidou, Anna; Marrosu, Giovanni; Zamba 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 949 KB

A compound heterozygous mutation in HADH

✍ Hong, Young; Lee, Ja; Park, Jin-Mo; Choi, Yu-Ri; Hyun, Young; Yoon, Bo; Yoo, Jeo 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 870 KB

Novel GJB1 mutation causing adult-onset

✍ Martikainen, Mika H.; Majamaa, Kari 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 216 KB

The gene encoding ganglioside-induced di

✍ Cuesta, Ana; Pedrola, Laia; Sevilla, Teresa; García-Planells, Javier; Chumillas, 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 727 KB

P50 Genetic dysfunction of MT-ATP6 can c

✍ R.D.S. Pitceathly; S.M. Murphy; E. Cottenie; A. Chalasani; M.G. Sweeney; C. Wood 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 54 KB