Michaela Auer‐Grumbach

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh et al. · The American Journal of Human Genetics · 2004 · 812 citations · Full text

Life Sciences, Neurology, Neuroscience +12

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi et al. · Nature Genetics · 2004 · 584 citations · Full text

Medicine, Neurology, Neuroscience +14

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Kristien Verhoeven, Peter De Jonghe, Katrien Coen et al. · The American Journal of Human Genetics · 2003 · 453 citations · Full text

Medicine, Neurology, Neuroscience +10

Multi-system neurological disease is common in patients with OPA1 mutations

Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman et al. · Brain · 2010 · 447 citations · Full text

Medicine, Genetics, Neurology +16

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

Jennifer L. Dawkins, D J Hulme, Sonal Brahmbhatt et al. · Nature Genetics · 2001 · 422 citations

Life Sciences, Genetics, Molecular Genetics +9