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المؤلفون: Raheleh Vazehan, Kimia Kahrizi, Hossein Najmabadi, Farnaz Sadeghinia, Sara Taghizadeh, Shahriar Nafissi, Zohreh Fattahi, Maryam Beheshtian, Sanaz Arzhangi, Ariana Kariminejad, Marzieh Mohseni
المصدر: Archives of Iranian Medicine. 23:426-433
مصطلحات موضوعية: Adult, Male, Adolescent, Hereditary spastic paraplegia, Disease, Iran, Biology, Young Adult, Charcot-Marie-Tooth Disease, Exome Sequencing, medicine, Humans, Child, Clinical phenotype, Gene, Exome sequencing, Genetics, Hereditary neuropathies, Genetic Variation, Infant, General Medicine, Middle Aged, medicine.disease, Phenotype, Child, Preschool, Mutation, Spinocerebellar ataxia, Female, Myelin Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f5e055027b256a8da543e51ebb5fac8Test
https://doi.org/10.34172/aim.2020.39Test -
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المؤلفون: Shahriar Nafissi, Bentolhoda Ziaaddini, Yusuf A. Rajabally, Akram Panahi, Farzad Fatehi, Ali Asghar Okhovat
المصدر: Journal of the peripheral nervous system : JPNSREFERENCES. 26(4)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, medicine.drug_class, Neural Conduction, Chronic inflammatory demyelinating polyneuropathy, Iran, Young Adult, Refractory, Internal medicine, medicine, Retrospective analysis, Humans, Adverse effect, Child, Retrospective Studies, business.industry, General Neuroscience, Middle Aged, medicine.disease, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Cohort, Prednisolone, Corticosteroid, Rituximab, Neurology (clinical), business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef4f696b7575ed1b2fa409dd245328eTest
https://pubmed.ncbi.nlm.nih.gov/34469032Test -
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المؤلفون: Shahram Oveis Gharan, Shahriar Nafissi, Soroush Ehsan, Alaleh Vaghefifar, Koorosh Kamali, Ali Akbar Amirzargar, Farnaz Sinaei, Farzad Fatehi, Mahdi Mahmoudi
المصدر: Journal of neuromuscular diseases. 8(5)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Neuromuscular disease, Adolescent, Human leukocyte antigen, Iran, Severity of Illness Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Polymorphism (computer science), Myasthenia Gravis, Genetic predisposition, Medicine, Humans, Genetic Predisposition to Disease, Allele, Child, Alleles, Aged, Retrospective Studies, Polymorphism, Genetic, business.industry, Haplotype, Middle Aged, medicine.disease, Myasthenia gravis, 030104 developmental biology, Neurology, Haplotypes, Immunology, Etiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8beea15e7ce2d2ea76b5670ad542a3aaTest
https://pubmed.ncbi.nlm.nih.gov/34057095Test -
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المؤلفون: Reza Hajati, Atefeh Davarzani, Mahdieh Pashaei, Farzaneh Larti, Afagh Alavi, Babak Zamani, Shahriar Nafissi, Mohammad Rohani, Yalda Nilipour
المصدر: Journal of neurogenetics. 35(2)
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Adolescent, Hereditary spastic paraplegia, Cytochrome P450 Family 7, Disease, Biology, Genetic analysis, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Humans, Child, Gene, Genetic heterogeneity, Spastic Paraplegia, Hereditary, Apyrase, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Steroid Hydroxylases, Allelic heterogeneity, Female, Carrier Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2cd962763332dfd6ca3c6b40906cf4Test
https://pubmed.ncbi.nlm.nih.gov/33771085Test -
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المصدر: Journal of molecular neuroscience : MN. 71(12)
مصطلحات موضوعية: Male, Thymidine Phosphorylase, Young Adult, Ophthalmoplegia, Phenotype, Adolescent, Muscular Dystrophy, Oculopharyngeal, Codon, Nonsense, Intestinal Pseudo-Obstruction, Humans, Female, Genes, Recessive, Iran
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::71eff7a9424071351ea7aad86fb386deTest
https://pubmed.ncbi.nlm.nih.gov/33825174Test -
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المؤلفون: Hamidreza Moazzeni, Hanieh Taheri, Seyyed Saleh Hashemi, Farzad Fatehi, Shahriar Nafissi, Mina Tolou Ghani, Elahe Elahi, Afagh Alavi, Fahimeh Haji Akhoundi, Leila Javanparast, Hosein Shamshiri, Ramona Haji-Seyed-Javadi, Marzieh Khani, Matineh Heidari, Mohammad Rohani, Bahram Haghi Ashtiani
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Pathology, medicine.medical_specialty, lcsh:QH426-470, Electrodiagnosis, ARHSP, Adolescent, Juvenile amyotrophic lateral sclerosis, 030105 genetics & heredity, medicine.disease_cause, Corpus Callosum, Diagnosis, Differential, 03 medical and health sciences, juvenile amyotrophic lateral sclerosis, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, Exome, Genetics (clinical), Mutation, autosomal recessive hereditary spastic paraplegia, medicine.diagnostic_test, business.industry, SPG11, Spastic Paraplegia, Hereditary, Proteins, Magnetic resonance imaging, Original Articles, Phenotype, Magnetic Resonance Imaging, lcsh:Genetics, 030104 developmental biology, Autosomal Recessive Hereditary Spastic Paraplegia, Original Article, Female, ALS, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8450f32b9b2e9e38a9dc4cb5d8a1b908Test
http://europepmc.org/articles/PMC7336765Test -
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المؤلفون: Farnaz Sinaei, Ferdos Nazari, Mahmoud Reza Ashrafi, Farzad Fatehi, Yalda Nilipour, Shahriar Nafissi, Berthold Streubel, Omid Aryani
المصدر: Muscle & Nerve. 55:835-840
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Physiology, Population, Late onset, Disease, Iran, 030105 genetics & heredity, Consanguinity, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Glycogen storage disease type II, medicine, Humans, Genetic Predisposition to Disease, Child, Muscle, Skeletal, education, Family Health, Genetics, education.field_of_study, Electromyography, Glycogen Storage Disease Type II, business.industry, alpha-Glucosidases, Middle Aged, Evoked Potentials, Motor, Respiration Disorders, medicine.disease, Dried blood spot, Child, Preschool, Mutation, Acid alpha-glucosidase, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6166b3fc81fadb78cd280796cf4d0eaaTest
https://doi.org/10.1002/mus.25413Test -
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المؤلفون: Shahriar Nafissi, Stephanie Efthymiou, Marzieh Khani, Hosein Shamshiri, Henry Houlden, Hanieh Taheri, Elahe Elahi, Afagh Alavi
المصدر: American journal of medical genetics. Part A. 179(8)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Neuromuscular disease, Adolescent, Gene Expression, Pedigree chart, 030105 genetics & heredity, Iran, medicine.disease_cause, 03 medical and health sciences, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, medicine, Humans, Child, Genetics (clinical), Aged, Mutation, Base Sequence, business.industry, Infant, Proteins, Middle Aged, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Child, Preschool, Female, Hereditary motor and sensory neuropathy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09e9aa8202f94ce118be745c3229bf7eTest
https://pubmed.ncbi.nlm.nih.gov/31111683Test -
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المؤلفون: Shahriar Nafissi, Nicolas Lévy, J. Andoni Urtizberea, Shahram Attarian, Farzad Fatehi, Véronique Blanck-Labelle, Mohamad Baker Dbouk, Martin Krahn
المصدر: Journal of the Neurological Sciences. 359:256-259
مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, Dysferlinopathy, Adolescent, DNA Mutational Analysis, Muscle Proteins, Iran, Dysferlin, Young Adult, Atrophy, Humans, Medicine, Muscular dystrophy, Muscle, Skeletal, Genetic testing, Family Health, Genetics, biology, medicine.diagnostic_test, business.industry, Membrane Proteins, medicine.disease, Magnetic Resonance Imaging, Muscular Dystrophies, Limb-Girdle, Neurology, Mutation, biology.protein, Female, Neurology (clinical), Age of onset, business, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6cdef6fc73978917623ad11b5c1fe3Test
https://doi.org/10.1016/j.jns.2015.11.009Test -
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المؤلفون: Rita Horvath, Anna Bradshaw, Saleheh Sanatinia, Jennifer Duff, Shahriar Nafissi, Farzad Fatehi, Hanns Lochmüller, Yalda Nilipour
المصدر: Journal of the Neurological Sciences. 411:116707
مصطلحات موضوعية: Adult, Iron-Sulfur Proteins, Male, Biallelic Mutation, medicine.medical_specialty, Adolescent, Electron-Transferring Flavoproteins, Disease, Iran, medicine.disease_cause, Gastroenterology, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Muscular Dystrophies, 03 medical and health sciences, Exon, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Child, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Oxidoreductases Acting on CH-NH Group Donors, Mutation, business.industry, Heterozygote advantage, Lipid metabolism, Founder Effect, Neutral lipid, Neurology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285a480cd2a483032ca8439bf127b358Test
https://doi.org/10.1016/j.jns.2020.116707Test