Isabelle Kemlin

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

T.A. Duong, É. Sbidian, L. Valeyrie‐Allanore et al. · Orphanet Journal of Rare Diseases · 2011 · 134 citations · Full text

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the<i>TITF1/NKX2-1</i>gene

Domitille Gras, Laurence Jonard, Emmanuel Roze et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 124 citations

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort

Gaëlle Blanchard, Marie-Pierre Lafforgue, Laurence Lion‐François et al. · European Journal of Paediatric Neurology · 2015 · 79 citations · Full text

Neuro-oncology, Pediatric Brain Tumors, Optic Pathway Gliomas +10

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot et al. · Genetics in Medicine · 2018 · 54 citations · Full text

New Candidate Genes, Mendelian Disorder, Genetic Disorder +10

Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1

Yves Chaix, Valérie Lauwers‐Cancès, Nathalie Faure-Marie et al. · Child Neuropsychology · 2017 · 31 citations