Publications by authors named "Simon Samaan"

8Publications

Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

Pediatr Neurol 2019 11 1;100:97-99. Epub 2019 Mar 1.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de référence Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.005DOI Listing
November 2019

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Neurol Genet 2018 Dec 3;4(6):e289. Epub 2018 Dec 3.

INSERM UMR 1141 PROTECT (I.D., P.B., S.S., O.B.-T.), Université Paris Diderot- Sorbonne Paris Cité; INSERM U1212-CNRS UMR 5320 (H.D.-O., M.T.), Université de Bordeaux; Neurologie Pédiatrique et Maladies Métaboliques (K.B., F.R., O.B-.T.), Centre de référence des leucodystrophies et leucoencéphalopathies de cause rare (LEUKOFRANCE), CHU APHP Robert-Debré, Paris, France; LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory (H.J., Y.B.), Institut Pasteur de Tunis; Department of Medical Genetics, UF Molecular Genetics (S.S.), CHU APHP Robert-Debré Paris; Service de Cytogénétique Médicale (E.E.P.), CHU Clermont-Ferrand; Neurologie Pédiatrique (C.C.), Endocrinologie Pédiatrique (C.B.), CHU Hôpital des Enfants, Toulouse; Hôpital Femme Mère Enfant, Neurologie Pédiatrique (A.L.P., C.R.), Hospices Civils de Lyon, Bron; Department of Pediatric Radiology (M.E.-B.), CHU APHP Robert-Debré, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283457PMC
December 2018

Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features.

J Neurol Neurosurg Psychiatry 2019 Jul 2;90(7):836-838. Epub 2018 Nov 2.

Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism, Groupe Hospitalier Pitié-Salpêtrière (AP-HP), Paris, France

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http://dx.doi.org/10.1136/jnnp-2018-319214DOI Listing
July 2019

New Insights in Vanishing White Matter Disease: Isolated Bilateral Optic Neuropathy in Adult-Onset Disease: Response.

J Neuroophthalmol 2018 12;38(4):571-572

Neurology Unit, Pierre Paul Riquet/Purpan University Hospital, Toulouse, France Ophthalmology Unit, Purpan University Hospital, Toulouse, France Radiology Unit, Purpan University Hospital, Toulouse, France Department of Medical Genetics, UF Molecular Genetics, Robert Debre University Hospital, Paris, France INSERM UMR-S1141,DHU PROTECT,Paris Diderot University,Robert Debre University Hospital,Paris, France Neurology Unit, University Hospital Guy de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1097/WNO.0000000000000705DOI Listing
December 2018

Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

Metab Brain Dis 2017 12 3;32(6):2149-2154. Epub 2017 Sep 3.

Service de Génétique Médicale, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1007/s11011-017-0101-6DOI Listing
December 2017

Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.

Indian J Pediatr 2015 May 24;82(5):487-9. Epub 2014 Dec 24.

Division of Pediatric Neurology, Department of Pediatrics, BLK Super Speciality Hospital, Pusa Road, New Delhi, 110005, India,

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http://dx.doi.org/10.1007/s12098-014-1663-5DOI Listing
May 2015