Christine Verellen

X-linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 595 citations

Life Sciences, Genetics, Molecular Genetics +16

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi et al. · Nature Genetics · 2004 · 380 citations · Full text

Life Sciences, Genetics, Neurology +13

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi, Carol Dobson‐Stone, Justin P. Rubio et al. · Nature Genetics · 2001 · 356 citations

Life Sciences, Cell Biology, Molecular Biology +4

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype

Peter De Jonghe, Vincent Timmerman, C. Ceuterick et al. · Brain · 1999 · 222 citations · Full text

Medicine, Genetics, Neurology +17

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

Andrea I. McClatchey, Peter Van den Bergh, Margaret A. Pericak‐Vance et al. · Cell · 1992 · 220 citations

Life Sciences, Genetics, Molecular Genetics +13