Isabelle Le Ber

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon et al. · PLoS Medicine · 2017 · 609 citations · Full text

Life Sciences, Genetics, Neurology +17

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Isabelle Le Ber, Agnès Camuzat, Didier Hannequin et al. · Brain · 2008 · 349 citations

Life Sciences, Genetics, Neurology +17

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller, Ana Westenberger, María Jesús Sobrido et al. · Nature Genetics · 2013 · 328 citations · Full text

Life Sciences, Genetics, Neuroscience +11

<i>SOD1</i>, <i>ANG</i>, <i>VAPB</i>, <i>TARDBP</i>, and <i>FUS</i> mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Stéphanie Millecamps, François Salachas, C. Cazeneuve et al. · Journal of Medical Genetics · 2010 · 296 citations · Full text

Life Sciences, Genetics, Neurology +17

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Suzanne Lesage, Isabelle Le Ber, Christel Condroyer et al. · Brain · 2013 · 161 citations · Full text

Life Sciences, Genetics, Neurology +14