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Author Details
Full Name
Naima Bouslam
Affiliation
Specialties Hospital
ORCID
Career Start Year
1999
Papers
37
H Index
19
Expertise
CM4AI Collaborator
Trey Ideker (CM4AI)
PMID
Paper Title
Journal Title
Published Year
37256495
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.
J Mol Neurosci
2023
32557143
Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.
J Mol Neurosci
2021
32131761
Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report.
BMC Med Genet
2020
33343949
A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.
Case Rep Genet
2020
29525037
Association of vitamin D status with multiple sclerosis in a case-control study from Morocco.
Rev Neurol (Paris)
2018
30581635
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.
Case Rep Genet
2018
28723952
Evidence for prehistoric origins of the G2019S mutation in the North African Berber population.
PLoS One
2017
28465860
<i>LRRK2</i> G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.
Parkinsons Dis
2017
29163333
Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.
Front Neurol
2017
27153400
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
2016
27413743
A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.
Biomed Res Int
2016
27259058
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
2016
26958025
Clinical and genetic data of Huntington disease in Moroccan patients.
Afr Health Sci
2015
24482476
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Science
2014
24319291
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
J Med Genet
2014
23180398
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.
Indian J Pediatr
2013
22436252
An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.
BMC Med Genet
2012
23176821
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Am J Hum Genet
2012
17503452
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
Am J Med Genet B Neuropsychiatr Genet
2007
17661097
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
Neurogenetics
2007
17273843
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Hum Genet
2007
17322883
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nat Genet
2007
16333315
Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.
Eur J Hum Genet
2006
16511635
A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
J Neurol
2006
16434418
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
Brain
2006
16399879
Mutation 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 Genet
2006
16682547
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
Arch Neurol
2006
16699786
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
Neurogenetics
2006
15786464
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Ann Neurol
2005
16193476
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Ann Neurol
2005
14770181
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nat Genet
2004
15313841
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
Arch Neurol
2004
14705117
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
Ann Neurol
2004
14736755
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Brain
2004
14586604
High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.
J Neurol
2003
12039660
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.
J Neurol Sci
2002
10064178
Vitamin E deficiency ataxia associated with adenoma.
J Neurol Sci
1999
1 - 37 of 37
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