User: Guest  Login
Document type:
journal article 
Author(s):
Schabhüttl, Maria; Wieland, Thomas; Senderek, Jan; Baets, Jonathan; Timmerman, Vincent; De Jonghe, Peter; Reilly, Mary M; Stieglbauer, Karl; Laich, Eva; Windhager, Reinhard; Erwa, Wolfgang; Trajanoski, Slave; Strom, Tim M; Auer-Grumbach, Michaela 
Title:
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 
Abstract:
Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be subdivided into three main groups: HMSN, dHMN, and HSN. At present, more than 50 IPN genes have been identified. Still, many patients and families with IPN have not yet received a molecular genetic diagnosis because clinical genetic testing usually onl...    »
 
Journal title abbreviation:
J Neurol 
Year:
2014 
Journal volume:
261 
Journal issue:
Pages contribution:
970-82 
Language:
eng 
Print-ISSN:
0340-5354 
TUM Institution:
Institut für Humangenetik