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Results: 1-3 |
Results: 3
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
Authors: Guelly, Christian Zhu, Peng-Peng Leonardis, Lea Papi., Lea Auer-Grumbach, Michaela
Citation: Guelly, Christian et al., Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I, American journal of human genetics (Online) AJHG , 88(1), 2011, pp. 99-105
Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
Authors: Rotthier, Annelies Auer-Grumbach, Michaela Janssens, Katrien Baets, Jonathan Timmerman, Vincent
Citation: Rotthier, Annelies et al., Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 513-522
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
Authors: Chen, Ying-Zhang Bennett, Craig L. Huynh, Huy M. Blair, Ian P. Puls, Imke Irobi, Joy Dierik, Ines Abel, Annette Kennerson, Marina L. Rabin, Bruce A. Nicholson, Garth A. Auer-Grumbach, Michaela Wagner, Klaus De Jonghe, Peter Griffin, John W. Fishbeck, Kenneth H. Timmerman, VIncent Cornblath, David R. Chance, Philip F.
Citation: Chen, Ying-zhang et al., DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4), American journal of human genetics , 74(6), 2004, pp. 1128-1135
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