المؤلفون: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime, Ahmed Bouhouche

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Choreoacanthocytosis, VPS13A gene, Nonsense mutation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-0983-8; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/37c5ff81743e44879ba290097cd69e25

المؤلفون: Imane Smaili, Imane Hajjaj, Rachid Razine, Houyam Tibar, Ayyoub Salmi, Naima Bouslam, Ahmed Moussa, Wafa Regragui, Ahmed Bouhouche

المصدر: Case Reports in Genetics, Vol 2020 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/af5f2d2e5e504ab3bcd4c508ff655f3c

المؤلفون: Imane Smaili, Houyam Tibar, Mounia Rahmani, Najlaa Machkour, Rachid Razine, Hajar Naciri Darai, Naima Bouslam, Ali Benomar, Wafa Regragui, Ahmed Bouhouche

المصدر: Journal of Molecular Neuroscience.

مصطلحات موضوعية: Cellular and Molecular Neuroscience, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c31751d34e20c00c1c58bf1d1f7f0669
https://doi.org/10.1007/s12031-023-02128-9

المؤلفون: Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

المصدر: Case Reports in Genetics, Vol 2018 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/fd3c6829c46240aaa791c579a95b452c

المؤلفون: Ahmed Bouhouche, Christelle Tesson, Wafaa Regragui, Mounia Rahmani, Valérie Drouet, Houyam Tibar, Zouhayr Souirti, Rafiqua Ben El Haj, Naima Bouslam, Mohamed Yahyaoui, Alexis Brice, Ali Benomar, Suzanne Lesage

المصدر: Frontiers in Neurology, Vol 8 (2017)

مصطلحات موضوعية: Parkinson’s disease, Moroccan patients, consanguinity, chromosomal microarray analysis, next-generation sequencing gene panel, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fneur.2017.00567/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/7d19805c66a144fbaea0ae953be271c0

المؤلفون: Rafiqua Ben El Haj, Ayyoub Salmi, Wafa Regragui, Ahmed Moussa, Naima Bouslam, Houyam Tibar, Ali Benomar, Mohamed Yahyaoui, Ahmed Bouhouche

المصدر: PLoS ONE, Vol 12, Iss 7, p e0181335 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5517005?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a928be8dcd894461aa0d40e5ef617c96

المؤلفون: Ahmed Bouhouche, Houyam Tibar, Rafiqua Ben El Haj, Khalil El Bayad, Rachid Razine, Sanaa Tazrout, Asmae Skalli, Naima Bouslam, Loubna Elouardi, Ali Benomar, Mohammed Yahyaoui, Wafa Regragui

المصدر: Parkinson's Disease, Vol 2017 (2017)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-8083; https://doaj.org/toc/2042-0080

URL الوصول: https://doaj.org/article/8adb26575b174d94aee5d9a5851268ea

المؤلفون: Wafa Regragui, Suzanne Lesage, Ahmed Bouhouche, Naima Bouslam, Ali Benomar, Christelle Tesson, Hélène Bertrand, Imane Smaili, Alexis Brice, M. Rahmani

المصدر: Journal of molecular neuroscience : MN. 71(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, PINK1, Genes, Recessive, Nerve Tissue Proteins, Disease, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, Consanguinity, 0302 clinical medicine, Sequence Homology, Nucleic Acid, Humans, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Family history, Age of Onset, Index case, Gene, Alleles, Genetic Association Studies, Aged, Genes, Dominant, Genetics, High-Throughput Nucleotide Sequencing, Parkinson Disease, General Medicine, Middle Aged, Minor allele frequency, Morocco, 030104 developmental biology, Mutation, Female, Symptom Assessment, Multiplex Polymerase Chain Reaction, Sequence Alignment, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::904cdc382f11e3e040ce588a9ee50ee2
https://pubmed.ncbi.nlm.nih.gov/32557143

المؤلفون: E. Ait Ben Haddou, K. Hajjout, Elmostafa El Fahime, Houyam Tibar, Asmae Skalli, Rachid Razine, Naima Bouslam, R. El Jaoudi, Ghislain Armel Mpandzou, A. Bouhouche, Ali Benomar, A. Alami, Mohamed Yahyaoui

المصدر: Revue Neurologique. 174:150-156

مصطلحات موضوعية: Adult, Male, Aging, medicine.medical_specialty, Multiple Sclerosis, Population, Nutritional Status, Severity of Illness Index, Gastroenterology, Pathogenesis, Disability Evaluation, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Hypovitaminosis, Disease severity, Reference Values, Internal medicine, medicine, Vitamin D and neurology, Humans, In patient, 030212 general & internal medicine, Age of Onset, Vitamin D, education, Calcifediol, education.field_of_study, business.industry, Multiple sclerosis, Case-control study, Middle Aged, Vitamin D Deficiency, medicine.disease, Morocco, Neurology, Case-Control Studies, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e3ed5e6976ba3905789a891f515b8f
https://doi.org/10.1016/j.neurol.2017.06.030

المؤلفون: El Hachmia Ait Ben Haddou, Ahmed Bouhouche, Naima Bouslam, Elmostafa El Fahime, Rachid Tazi-Ahnini, Ali Benomar, Asmae Skalli, Houyam Tibar, Khadija Hajjout, Ghislain Armel Mpandzou, Mohamed Yahyaoui

المصدر: World Journal of Neuroscience. :363-375

مصطلحات موضوعية: 0301 basic medicine, Vitamin, education.field_of_study, Pathology, medicine.medical_specialty, business.industry, Multiple sclerosis, Population, Physiology, Context (language use), Single-nucleotide polymorphism, medicine.disease, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Genotype, Vitamin D and neurology, medicine, Allele, education, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::02be9a6ed44a34043a5af602b816de51
https://doi.org/10.4236/wjns.2017.74028

المؤلفون: Naima Bouslam, Elmostafa El Fahime, Yamna Kriouale, Mohamed Yahyaoui, Ahmed Bouhouche, Ali Benomar, Imane Smaili, Mohammed Jiddane, Houyam Tibar

المصدر: Case Reports in Genetics
Case Reports in Genetics, Vol 2018 (2018)

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Proband, Genetics, lcsh:QH426-470, Pontocerebellar hypoplasia, Case Report, General Medicine, Biology, medicine.disease, Genetic analysis, lcsh:Genetics, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), symbols, medicine, Missense mutation, Genotyping, 030217 neurology & neurosurgery, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58c91dd94bef3f048c8b3edd9bc9fbd6
http://europepmc.org/articles/PMC6276426

المؤلفون: Zouhayr Souirti, Ahmed Bouhouche, Naima Bouslam, M. Rahmani, Rafiqua Ben El Haj, Valérie Drouet, Suzanne Lesage, Alexis Brice, Houyam Tibar, Mohamed Yahyaoui, Christelle Tesson, Wafaa Regragui, Ali Benomar

المساهمون: Université Mohammed V, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Université Sidi Mohamed Ben Abdellah (USMBA), Université Mohammed V de Rabat [Agdal] (UM5), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), HAL UPMC, Gestionnaire

المصدر: Frontiers in Neurology
Frontiers in Neurology, Frontiers, 2017, 8, pp.567. ⟨10.3389/fneur.2017.00567⟩
Frontiers in Neurology, 2017, 8, pp.567. ⟨10.3389/fneur.2017.00567⟩
Frontiers in Neurology, Vol 8 (2017)

مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, Locus (genetics), Consanguinity, Biology, Moroccan patients, Compound heterozygosity, lcsh:RC346-429, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, consanguinity, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], lcsh:Neurology. Diseases of the nervous system, Original Research, next-generation sequencing gene panel, next- generation sequencing gene panel, Genetics, Point mutation, Molecular biology, 3. Good health, 030104 developmental biology, Neurology, Parkinson’s disease, chromosomal microarray analysis, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), 030217 neurology & neurosurgery, Consanguineous Marriage, Neuroscience, Founder effect

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6343992ce851680f3d621d817dd1c229
https://hal.sorbonne-universite.fr/hal-01633814/file/fneur-08-00567.pdf

المؤلفون: Ali Benomar, Wafa Regragui, Ahmed Bouhouche, Naima Bouslam, Mohammed Yahyaoui, El Hachmia Aitbenhaddou, Fatima Imounan

المصدر: World Journal of Neuroscience. :299-305

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mutation, medicine.medical_specialty, Ataxia, biology, business.industry, Vitamin E, medicine.medical_treatment, Disease progression, nutritional and metabolic diseases, Disease, Audiology, medicine.disease_cause, Gastroenterology, Internal medicine, medicine, Frataxin, biology.protein, Vitamin E deficiency, Allele, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::035e4873661699d2c8fcec7d755323a1
https://doi.org/10.4236/wjns.2014.44033

المؤلفون: Ali Benomar, Giovanni Stevanin, Alexis Brice, Marion Gaussen, Alexandra Durr, Simon Edvardson, Markus Schuelke, Talya Dor, Ahmed Bouhouche, Naima Bouslam, Yuval Cinnamon, Avraham Shaag, Laure Raymond, Vincent Meyer

المصدر: Journal of Medical Genetics. 51:137-142

مصطلحات موضوعية: Male, Adolescent, Genetic Linkage, Hereditary spastic paraplegia, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Kinesins, Biology, Polymorphism, Single Nucleotide, Consanguinity, Young Adult, Cerebellar Diseases, Genetic linkage, Genetics, medicine, Spastic, Humans, Missense mutation, Amino Acid Sequence, Spasticity, Child, Genetic Association Studies, Genetics (clinical), KIF1A, Base Sequence, Infant, medicine.disease, Pedigree, Chromosome 17 (human), HEK293 Cells, Child, Preschool, Paraparesis, Spastic, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df525dfbaa1088160e6728ce25fc28ad
https://doi.org/10.1136/jmedgenet-2013-102012

المؤلفون: Mitsunori Watanabe, Naima Bouslam, Patrick Calvas, A. M’zahem, J.-M. Warter, Paula Coutinho, Pascale Bomont, Christine Tranchant, Maria-Ceu Moreira, Massimo Pandolfo, Jean Pouget, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Michel Koenig, Meriem Tazir, Christopher Shaw, M Tanaka, P. Mendonça, João Tiago Guimarães, I. Le Ber, Traki Benhassine, Mikio Shoji, Eimear Dunne, Patrick Aubourg, Andrea H. Németh, Masami Shizuka-Ikeda, Jörg B. Schulz, S Klur, Clara Barbot, J C Moniz, Louise Izatt, Ludger Schöls, Jorge Sequeiros

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: Ataxia, Saccharomyces cerevisiae Proteins, genetic structures, Cerebellar Ataxia, Biology, medicine.disease_cause, Apraxia, Fungal Proteins, Ocular Motility Disorders, Genetics, medicine, Humans, Oculomotor apraxia, Aprataxin, Mutation, DNA Helicases, Chromosome Mapping, Autosomal recessive cerebellar ataxia, medicine.disease, RNA Helicase A, Multifunctional Enzymes, Cerebellar atrophy, alpha-Fetoproteins, medicine.symptom, Chromosomes, Human, Pair 9, RNA Helicases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d766003c560c87712d225a8c9a1c39
https://doi.org/10.1038/ng1303

المؤلفون: Jehanne Aasfara, Ali Benomar, El Hachmia. Ait Benhaddou, Kaoutar. El alaoui, Mohamed Yahyaoui, Ahmed Bouhouche, Naima Bouslam, Fatima Imounan, Wafa Regragui

المصدر: World Journal of Neuroscience. :217-222

مصطلحات موضوعية: Ataxia, Antioxidant, business.industry, medicine.medical_treatment, Vitamin E, Disease, Pharmacology, medicine.disease, Tardive dyskinesia, medicine.disease_cause, Neuroprotection, medicine, medicine.symptom, Amyotrophic lateral sclerosis, business, Neuroscience, Oxidative stress

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d1dffaee082d652e416a28591c86ac27
https://doi.org/10.4236/wjns.2012.24033

المؤلفون: El Hachmia Ait Ben Haddou, Mohamed Yahyaoui, Nazha Birouk, Wafaa Regragui, Mustapha El Alaoui Faris, Ali Benomar, Ahmed Bouhouche, Naima Bouslam, Safaa Lytim, Khadjia Khaldi, Yamna Kriouile, Soufiane Bellamine, Hind Lamghari

المصدر: African Health Sciences; Vol 15, No 4 (2015); 1232-1238

مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Genotype, Population, Disease, Ethnic origin, 03 medical and health sciences, Age Distribution, 0302 clinical medicine, Trinucleotide Repeats, Internal medicine, Epidemiology, Humans, Medicine, Outpatient clinic, Age of Onset, Sex Distribution, Allele, education, Alleles, Huntingtin Protein, education.field_of_study, Polymorphism, Genetic, business.industry, Articles, General Medicine, Morocco, Huntington disease/diagnosis, Huntington disease/epidemiology, Huntington disease/genetics, Trinucleotide repeat expansion, Huntington Disease, 030104 developmental biology, Female, Age of onset, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30591757fb58d3ec76ef5c6d5b88eed9
https://www.ajol.info/index.php/ahs/article/view/128369

المؤلفون: Rachid Tazi-Ahnini, Mohamed Yahyaoui, Rafiqua Ben El Haj, Wafaa Regragui, Ahmed Bouhouche, Naima Bouslam, Asmae Skalli, Ali Benomar

المصدر: BioMed Research International, Vol 2016 (2016)
BioMed Research International

مصطلحات موضوعية: 0301 basic medicine, Male, Article Subject, Sequence analysis, Amino Acid Motifs, Mutation, Missense, lcsh:Medicine, PINK1, Biology, medicine.disease_cause, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, General Biochemistry, Genetics and Molecular Biology, Chromosomes, Levodopa, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Protein Domains, medicine, Missense mutation, Humans, Gene, Oligonucleotide Array Sequence Analysis, Sanger sequencing, Genetics, Mutation, General Immunology and Microbiology, Parkinsonism, Homozygote, lcsh:R, Computational Biology, Parkinson Disease, General Medicine, Exons, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Morocco, 030104 developmental biology, Phenotype, symbols, Disease Progression, Cognition Disorders, Protein Kinases, 030217 neurology & neurosurgery, Research Article

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a85fdf89e4ec47694715125686d0c336

المؤلفون: Bénédicte Pontier, Céline Charon, Naima Bouslam, Alexis Brice, Pascale Ribai, Christel Dussert, Alexandra Durr, Bertrand Fontaine, Giovanni Stevanin, Isabelle Nelson

المصدر: Journal of Neurology. 253:714-719

مصطلحات موضوعية: Adult, Male, Hereditary spastic paraplegia, Locus (genetics), Short stature, Degenerative disease, medicine, Spastic, Humans, Cerebral Cortex, Family Health, Genetics, Chromosomes, Human, Pair 10, Spastic Paraplegia, Hereditary, business.industry, Haplotype, Chromosome Mapping, medicine.disease, Magnetic Resonance Imaging, Phenotype, Neurology, Female, Neurology (clinical), Lod Score, medicine.symptom, Paraplegia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77fe3982b07fef9db7e565c258041d4c
https://doi.org/10.1007/s00415-006-0094-2

المؤلفون: Ali Benomar, Ahmed Bouhouche, Naima Bouslam, T. Chkili, Mohamed Yahyaoui, Reda Ouazzani

المصدر: European Journal of Human Genetics. 14:249-252

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genes, Recessive, Locus (genetics), Neurological disorder, Gene mapping, Genetic linkage, Genetics, Spastic, medicine, Humans, Hereditary Sensory and Autonomic Neuropathies, Genetics (clinical), Paraplegia, business.industry, Chromosome Mapping, Sensory loss, medicine.disease, Spinal cord, Pedigree, Morocco, medicine.anatomical_structure, Haplotypes, Chromosomes, Human, Pair 5, Lod Score, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ab8f2cc7a715fc685988b5a104b763
https://doi.org/10.1038/sj.ejhg.5201537