Simon Samaan
French Institute of Health and Medical Research
6 Papers
12 Citations
Simon Samaan is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Leukodystrophy & Medicine. The author has an hindex of 4, co-authored 5 publications.
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Papers
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz,Hélène Dumay-Odelot,Karima Boussaid,Yosra Bouyacoub,Pauline Barreau,Simon Samaan,Haifa Jmel,Eleonore Eymard-Pierre,Claude Cances,Céline Bar,Anne-Lise Poulat,Christophe Rousselle,Florence Renaldo,Monique Elmaleh Bergès,Martin Teichmann,Odile Boespflug-Tanguy +15 more
TL;DR: These analyses underlined the key role of ribosomal RNA regulation in the development and maintenance of the white matter and the cerebellum as already reported for diseases related to genes involved in transfer RNA or translation initiation factors.
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
Pekes Codjia,Xavier Ayrignac,F. Mochel,Kevin Mouzat,Clarisse Carra-Dalliere,Giovanni Castelnovo,Emmanuel Ellie,Frédérique Etcharry-Bouyx,Christophe Verny,Serge Belliard,Didier Hannequin,Cecilia Marelli,Yann Nadjar,I. Le Ber,Imen Dorboz,Simon Samaan,Odile Boespflug-Tanguy,Serge Lumbroso,Pierre Labauge +18 more
TL;DR: Brain imaging findings in 16 patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia were analyzed to refine radiologic diagnostic clues and emphasized the great variability of MR imaging findings seen.
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Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Sanae Allali,Imen Dorboz,Simon Samaan,Abdelhamid Slama,Charlène Rambaud,Odile Boespflug-Tanguy,Catherine Sarret +6 more
TL;DR: W Whole exome sequencing revealed a homozygous c.1035dup mutation in the two siblings, supporting a diagnosis of Sengers syndrome, and an intermediate form with intellectual deficiency was presented, an unusual feature in Sengers Syndrome.
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Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Ichraf Kraoua,Adnane Karkar,Adnane Karkar,Cyrine Drissi,Hanene Benrhouma,Hedia Klaa,Simon Samaan,Florence Renaldo,Monique Elmaleh,Mohamed Ben Hamouda,Sonia Abdelhak,Odile Boespflug-Tanguy,Ilfghem Ben Youssef-Turki,Imen Dorboz +13 more
TL;DR: RNA polymerase III (Pol III)‐related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in PolR3A and POLR3B.
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The threshold tracking nerve conduction study technique: Experience of clinical users unfamiliar with a research-grade neuronal excitability system
Courtney E. McIlduff,Brian J. Wainger,Roy Freeman,Simon Samaan,I. Yator,Hilda L. Gutierrez,Sabrina Verga,Seward B. Rutkove +7 more
TL;DR: The QTracS protocol as mentioned in this paper is a threshold tracking nerve conduction study (TTNCS) protocol for clinical electrophysiologists with different degrees of experience performing standard NCS studies.
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