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Author Details

Naima Bouslam
Specialties Hospital
1999
37
19
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37256495Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.J Mol Neurosci2023
32557143Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.J Mol Neurosci2021
32131761Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.BMC Med Genet2020
33343949A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.Case Rep Genet2020
29525037Association of vitamin D status with multiple sclerosis in a case-control study from Morocco.Rev Neurol (Paris)2018
30581635Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.Case Rep Genet2018
28723952Evidence for prehistoric origins of the G2019S mutation in the North African Berber population.PLoS One2017
28465860<i>LRRK2</i> G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.Parkinsons Dis2017
29163333Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.Front Neurol2017
27153400Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.Am J Hum Genet2016
27413743A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.Biomed Res Int2016
27259058Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.Am J Hum Genet2016
26958025Clinical and genetic data of Huntington disease in Moroccan patients.Afr Health Sci2015
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24319291KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.J Med Genet2014
23180398CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.Indian J Pediatr2013
22436252An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.BMC Med Genet2012
23176821Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Am J Hum Genet2012
17503452Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.Am J Med Genet B Neuropsychiatr Genet2007
17661097Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.Neurogenetics2007
17273843A novel locus for autosomal recessive spastic ataxia on chromosome 17p.Hum Genet2007
17322883Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.Nat Genet2007
16333315Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.Eur J Hum Genet2006
16511635A new phenotype linked to SPG27 and refinement of the critical region on chromosome.J Neurol2006
16434418Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.Brain2006
16399879Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.J Med Genet2006
16682547Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.Arch Neurol2006
16699786Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.Neurogenetics2006
15786464Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).Ann Neurol2005
16193476New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.Ann Neurol2005
14770181Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.Nat Genet2004
15313841Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.Arch Neurol2004
14705117Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.Ann Neurol2004
14736755Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.Brain2004
14586604High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.J Neurol2003
12039660Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.J Neurol Sci2002
10064178Vitamin E deficiency ataxia associated with adenoma.J Neurol Sci1999
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Collaborators

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Co-authored papers 25
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 19
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Co-authored papers 17
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 5
Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University
Co-authored papers 4
University of California
Co-authored papers 2
Sorbonne Universite, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS
Co-authored papers 2
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 2
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Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 2
Yale School of Medicine
Co-authored papers 1
University of Oxford
Co-authored papers 1
Istanbul Technical University
Co-authored papers 1
Broad Institute of MIT and Harvard
Co-authored papers 1
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 1
Howard Hughes Medical Institute, University of California
Co-authored papers 1
King AbdulAziz University
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Center for Brain Development, University of California
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Cairo University
Co-authored papers 1
Istanbul University
Co-authored papers 1
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Howard Hughes Medical Institute, University of California
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University of Pennsylvania
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Clinical Genetics Deaprtment
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Acibadem Mehmet Ali Aydinlar University
Co-authored papers 1
National Institute of Mental Health and Neurosciences (NIMHANS)
Co-authored papers 1