María Antonia Ramos Arroyo

Homozygotes for Huntington's disease

Nancy S. Wexler, Anne B. Young, Rudolph E. Tanzi et al. · Nature · 1987 · 352 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

Richard J.L.F. Lemmers, Jelle J. Goeman, Patrick J. van der Vliet et al. · Human Molecular Genetics · 2014 · 166 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Congenital contractural arachnodactyly Report of four additional families and review of literature

María Antonia Ramos Arroyo, David D. Weaver, Rodney K. Beals · Clinical Genetics · 1985 · 73 citations

Medicine, Anatomy, Articulation Disorders +7

Two novel <i>SCN1A</i> mutations identified in families with familial hemiplegic migraine

Claudia M Weller, Nadine Pelzer, Boukje de Vries et al. · Cephalalgia · 2014 · 27 citations · Full text

Life Sciences, Genetics, Neurology +14

Homozygous deletion of an <i>EGR2</i> enhancer in congenital amyelinating neuropathy

Benoît Funalot, Piotr Topilko, María Antonia Ramos Arroyo et al. · Annals of Neurology · 2012 · 25 citations

Medicine, Genetics, Neuroscience +17