Publications by authors named "Naima Bouslam"

31Publications

Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.

J Mol Neurosci 2020 Jun 16. Epub 2020 Jun 16.

Neurology and Neurogenetics, Faculty of Medicine and Pharmacy, Genomics Center of Human Pathologies, University Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1007/s12031-020-01635-3DOI Listing
June 2020

Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.

BMC Med Genet 2020 03 4;21(1):47. Epub 2020 Mar 4.

Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/s12881-020-0983-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057524PMC
March 2020

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Case Rep Genet 2018 15;2018:8635698. Epub 2018 Nov 15.

Genetics Center of the Cheikh Zayed Foundation, Abulcasis International University of Health Sciences, Rabat, Morocco.

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http://dx.doi.org/10.1155/2018/8635698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276426PMC
November 2018

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.

Front Neurol 2017 31;8:567. Epub 2017 Oct 31.

Sorbonne Universités, UPMC Université Paris 6 UMR_S 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.3389/fneur.2017.00567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674924PMC
October 2017

Evidence for prehistoric origins of the G2019S mutation in the North African Berber population.

PLoS One 2017 19;12(7):e0181335. Epub 2017 Jul 19.

Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Medical School and Pharmacy, Mohammed V University, Rabat, Morocco.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0181335PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517005PMC
September 2017

G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.

Parkinsons Dis 2017 30;2017:2412486. Epub 2017 Mar 30.

Research Team in Neurology and Neurogenetics, Medical School and Pharmacy, Mohammed V University, Rabat, Morocco.

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http://dx.doi.org/10.1155/2017/2412486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390546PMC
March 2017

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.

Biomed Res Int 2016 20;2016:3460234. Epub 2016 Jun 20.

Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, Morocco; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, 10100 Rabat, Morocco.

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http://dx.doi.org/10.1155/2016/3460234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931068PMC
March 2017

Clinical and genetic data of Huntington disease in Moroccan patients.

Afr Health Sci 2015 Dec;15(4):1232-8

Equipe de Recherche sur les Maladies Neurodégénératives, Faculté de Médecine et de Pharmacie, Université Mohammed V de Rabat, Morocco; Service de Neurologie et de Neurogénétique, Hôpital des Spécialités de Rabat, Morocco.

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http://dx.doi.org/10.4314/ahs.v15i4.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765413PMC
December 2015

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

J Med Genet 2014 Feb 6;51(2):137-42. Epub 2013 Dec 6.

Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-102012DOI Listing
February 2014

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Indian J Pediatr 2013 Aug 22;80(8):694-6. Epub 2012 Nov 22.

Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, BP, 6402 Al Irfane, Rabat, Morocco.

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http://dx.doi.org/10.1007/s12098-012-0889-3DOI Listing
August 2013

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):854-61

INSERM U679, Pierre and Marie Curie Paris 6 University, Pitié-Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1002/ajmg.b.30518DOI Listing
October 2007

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

J Neurol 2006 Jun 6;253(6):714-9. Epub 2006 Mar 6.

INSERM U679 (former U289), Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1007/s00415-006-0094-2DOI Listing
June 2006

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Brain 2006 Jun 24;129(Pt 6):1456-62. Epub 2006 Jan 24.

INSERM U679, Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.

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http://dx.doi.org/10.1093/brain/awl012DOI Listing
June 2006

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

Eur J Hum Genet 2006 Feb;14(2):249-52

Service de Neurologie et de Neurogénétique, Hôpital des Spécialités, Rabat, Morocco.

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http://dx.doi.org/10.1038/sj.ejhg.5201537DOI Listing
February 2006

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Ann Neurol 2005 Nov;58(5):720-9

Institut National de la Sante et de la Recherche Médicale U679 (formerly U289) and Institut Fédératif de Recherche en Neurosciences, Paris, France.

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http://dx.doi.org/10.1002/ana.20628DOI Listing
November 2005

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Ann Neurol 2005 Apr;57(4):567-71

INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.

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http://dx.doi.org/10.1002/ana.20416DOI Listing
April 2005

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Arch Neurol 2004 Aug;61(8):1242-8

INSERM U289, Institut Fédératif de Recherche en Neuroscience, Assistance Publique Hôpitaux de Paris, Hôpital de al Salpêtrière, Paris, France.

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http://dx.doi.org/10.1001/archneur.61.8.1242DOI Listing
August 2004

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

Ann Neurol 2004 Jan;55(1):97-104

INSERM U289, Federative Institute for Neuroscience Research (IFR-70), Paris.

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http://dx.doi.org/10.1002/ana.10798DOI Listing
January 2004