N
Naima Bouslam
Researcher at French Institute of Health and Medical Research
Publications - 41
Citations - 2613
Naima Bouslam is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Hereditary spastic paraplegia & Ataxia. The author has an hindex of 20, co-authored 40 publications receiving 2367 citations. Previous affiliations of Naima Bouslam include Mohammed V University & Pierre-and-Marie-Curie University.
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Journal ArticleDOI
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
Maria-Ceu Moreira,S Klur,Mitsunori Watanabe,Andrea H. Németh,I. Le Ber,J C Moniz,Christine Tranchant,Patrick Aubourg,Meriem Tazir,Ludger Schöls,Massimo Pandolfo,Jörg B. Schulz,Jean Pouget,Patrick Calvas,Masami Shizuka-Ikeda,Mikio Shoji,M Tanaka,Louise Izatt,Christopher Shaw,A. M’zahem,Eimear Dunne,Pascale Bomont,Traki Benhassine,Naima Bouslam,Giovanni Stevanin,Alexis Brice,João Tiago Guimarães,P. Mendonça,Clara Barbot,Paula Coutinho,Jorge Sequeiros,Alexandra Durr,J.-M. Warter,Michel Koenig +33 more
TL;DR: The causative mutations in AOA2 are identified in 15 families, which allows this entity to be clinically defined by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein.
Journal ArticleDOI
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino,Ali G. Fenstermaker,Maha S. Zaki,Matan Hofree,Jennifer L. Silhavy,Andrew Heiberg,Mostafa Abdellateef,Basak Rosti,Eric Scott,Lobna Mansour,Amira Masri,Hülya Kayserili,Jumana Y. Al-Aama,Ghada M H Abdel-Salam,Ariana Karminejad,Majdi Kara,Bülent Kara,Bita Bozorgmehri,Tawfeg Ben-Omran,Faezeh Mojahedi,Iman G. Mahmoud,Naima Bouslam,Ahmed Bouhouche,Ali Benomar,Sylvain Hanein,Laure Raymond,Sylvie Forlani,Massimo Mascaro,Laila Selim,Nabil Shehata,Nasir A. S. Al-Allawi,Parayil Sankaran Bindu,Matloob Azam,Murat Gunel,Ahmet Okay Caglayan,Kaya Bilguvar,Aslıhan Tolun,Mahmoud Y. Issa,Jana Schroth,Emily Spencer,Rasim Ozgur Rosti,Naiara Akizu,Keith K. Vaux,Anide Johansen,Alice A. Koh,Hisham Megahed,Alexandra Durr,Alexis Brice,Giovanni Stevanin,S. Gabriel,Trey Ideker,Joseph G. Gleeson +51 more
TL;DR: Using whole-exome sequencing in combination with network analysis, 18 previously unknown putative HSP genes are identified and validated and link HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.
Journal ArticleDOI
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Giovanni Stevanin,Filippo M. Santorelli,Hamid Azzedine,Hamid Azzedine,Paula Coutinho,Jacques Chomilier,Paola S. Denora,Elodie Martin,Elodie Martin,Anne Marie Ouvrard-Hernandez,Alessandra Tessa,Naima Bouslam,Naima Bouslam,Alexander Lossos,Perrine Charles,José Leal Loureiro,N. Elleuch,N. Elleuch,Christian Confavreux,Vítor Tedim Cruz,Merle Ruberg,Merle Ruberg,Eric LeGuern,Eric LeGuern,D. Grid,Meriem Tazir,Bertrand Fontaine,Bertrand Fontaine,Alessandro Filla,Enrico Bertini,Alexandra Durr,Alexandra Durr,Alexis Brice +32 more
TL;DR: Ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland are identified, suggesting a loss-of-function mechanism in ARHSP.
Journal ArticleDOI
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Isabelle Le Ber,Naima Bouslam,Sophie Rivaud-Péchoux,João Guimarães,Ali Benomar,Céline Chamayou,Cyril Goizet,Maria-Ceu Moreira,Sandra Klur,Mohamed Yahyaoui,Yves Agid,Michel Koenig,Giovanni Stevanin,Alexis Brice,Alexandra Durr +14 more
TL;DR: It is shown for the first time that AOA2 can be found in Europe, North Africa and the West Indies, and its relative frequency represents approximately 8% of non-Friedreich ARCA, which is more frequent than ataxia telangiectasia and ataxIA with oculomotor apraxia type 1 (AOA1), in the authors' series of adult patients.
Journal ArticleDOI
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
Christelle Tesson,Magdalena Nawara,Magdalena Nawara,Magdalena Nawara,Mustafa A. Salih,Rodrigue Rossignol,Maha S. Zaki,Mohammed Al Balwi,Rebecca Schüle,Cyril Mignot,Emilie Obre,Ahmed Bouhouche,Filippo M. Santorelli,Christelle M. Durand,Andrés Caballero Oteyza,Khalid H. El-Hachimi,Abdulmajeed Al Drees,Naima Bouslam,Foudil Lamari,Salah A. Elmalik,Mohammad M. Kabiraj,Mohammed Zain Seidahmed,Typhaine Esteves,Typhaine Esteves,Typhaine Esteves,Marion Gaussen,Marion Gaussen,Marion Gaussen,Marie Lorraine Monin,Marie Lorraine Monin,Marie Lorraine Monin,Gabor Gyapay,Doris Lechner,Michael A. Gonzalez,Christel Depienne,Fanny Mochel,Julie Lavie,Ludger Schöls,Didier Lacombe,Mohamed Yahyaoui,Ibrahim Al Abdulkareem,Stephan Züchner,Atsushi Yamashita,Ali Benomar,Cyril Goizet,Alexandra Durr,Joseph G. Gleeson,Frédéric Darios,Frédéric Darios,Frédéric Darios,Alexis Brice,Giovanni Stevanin +51 more
TL;DR: It is demonstrated in human cells that the HSP pathophysiology includes alteration of mitochondrial architecture and bioenergetics with increased oxidative stress and focus attention on lipid metabolism as a critical HSP pathway with a deleterious impact on mitochondrial bioenergetic function.