المؤلفون: Mohammad Shariati, Alireza Davoudi, Reza Boostani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Nafiseh Todarbary, Javad Akhondian, Narges Hashemi, Ariane Sadr-Nabavi

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Spinal muscular atrophy, SMN gene, Genetic counseling, PCR, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/9726dff5249c4ddba995677341c249bf

المؤلفون: Ines Tapken, Nora T. Detering, Peter Claus

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: macrophage, monocyte, spinal muscular atrophy, SMA, SMN, SMN gene, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1375428/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/75af687173234ee8b5369b2475d43e82

المؤلفون: Jing Li, Xin Li, Liqun Wang, Guode Wu

المصدر: Frontiers in Cellular Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: spinal muscular atrophy, SMN gene, SMN protein, moyamoya syndrome, moyamoya disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2022.811596/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/abfc446585dd46fd8f5f29b922a4f803

المؤلفون: V. V. Zabnenkova, E. L. Dadali, A. V. Polyakov

المصدر: Нервно-мышечные болезни, Vol 0, Iss 3, Pp 27-31 (2015)

مصطلحات موضوعية: spinal muscular atrophy, smn genes, genetic analysis, smn gene copy numbers, spinal muscular atrophy locus, genotype 2+0, gene point mutations, diagnostic algorithm, pheno/genotypic correlation, latent carriage, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/55; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/716012c3819e4a0bba9852710560ea5b

المؤلفون: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

مصطلحات موضوعية: Exon7, PCR-digestion, SMA, SMN gene

Relation: https://zenodo.org/communities/waset; https://doi.org/10.5281/zenodo.1128780; https://doi.org/10.5281/zenodo.1128781; oai:zenodo.org:1128781

الاتاحة: https://doi.org/10.5281/zenodo.1128781

المؤلفون: Imen Rekik, Amir Boukhris, Sourour Ketata, Mohamed Amri, Nourhene Essid, Imed Feki, Chokri Mhiri

المصدر: Annals of Indian Academy of Neurology, Vol 16, Iss 1, Pp 57-61 (2013)

مصطلحات موضوعية: Neuronal apoptosis inhibitory protein (NAIP) gene, spinal muscular atrophy, survival motor neuron (SMN) gene, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=1;spage=57;epage=61;aulast=Rekik; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/7e7d06ec00cf4fe3bcbea2badef8e2fb

المؤلفون: Gholamreza Mohamadian, Fatemeh Mosavi, Hamid Galehdari, Ali Akbar Momen, Seyed Reza Kazemi Nezhad

المصدر: Medical Journal of The Islamic Republic of Iran, Vol 25, Iss 4, Pp 216-221 (2011)

مصطلحات موضوعية: Spinal Muscular Atrophy (SMA), Survival Motor Neuron (SMN) Gene, Neuronal Apoptosis Inhibitory Protein (NAIP) Gene, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://mjiri.tums.ac.ir/browse.php?a_code=A-10-1-287&slc_lang=en&sid=1; https://doaj.org/toc/1016-1430; https://doaj.org/toc/2251-6840

URL الوصول: https://doaj.org/article/66ac681671864387b26c5c5b1db79b7e

المؤلفون: Kayoko Saito, 齋藤 加代子

المصدر: 神経治療学 / Neurological Therapeutics. 2019, 36(3):311

المؤلفون: Li, Jing, Li, Xin, Wang, Liqun, Wu, Guode

المصدر: Frontiers in Cellular Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: Cellular and Molecular Neuroscience, moyamoya syndrome, SMN gene, SMN protein, Neurosciences. Biological psychiatry. Neuropsychiatry, moyamoya disease, spinal muscular atrophy, RC321-571

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f81f334f366a48dae4165d77fe0d42d
https://www.frontiersin.org/articles/10.3389/fncel.2022.811596/full

المؤلفون: Rashnonejad, Afrooz, Chermahini, Gholamhossein Amini, Li, Shaoyong, Özkınay, Ferda, Gao, Guangping

مصطلحات موضوعية: Adeno-associated viral vector, Gene therapy, Human embryonic kidney 293 cells, Spinal muscular atrophy (SMA), Survival Motor Neuron (SMN) gene, Transient transfection, Electron microscopy

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Molecular Biotechnology; https://hdl.handle.net/11454/51549; https://doi.org/10.1007/s12033-015-9899-5; 58; 30; 36

الاتاحة: https://hdl.handle.net/11454/51549
https://doi.org/10.1007/s12033-015-9899-5

المؤلفون: Kocheva S, Vlaski-Jekic S, Kuturec M, Efremov G

المصدر: Balkan Journal of Medical Genetics, Vol 10, Iss 2, Pp 55-60 (2007)

مصطلحات موضوعية: spinal muscular atrophy (sma), survival motor neuron (smn) gene, neuronal apoptosis inhibitory protein (naip) gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/5e2f86530c0244e88729e5fd49ecd302

المؤلفون: Yogik Onky Silvana Wijaya, Hiroyuki Awano, Tomohiro Chiyonobu, Toshio Saito, Kentaro Okamoto, Poh San Lai, Emma Tabe Eko Niba, Yasuhiro Takeshima, Hisahide Nishio, Takenori Tozawa, Misaki Yamadera, Masakazu Shinohara

المصدر: Braindevelopment. 43(2)

مصطلحات موضوعية: Male, Neuromuscular disease, DNA Copy Number Variations, Genotype, Hybrid SMN gene, animal diseases, Gene Dosage, SMN1, Biology, Polymerase Chain Reaction, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, 0302 clinical medicine, Developmental Neuroscience, Japan, medicine, Humans, Gene conversion, Gene, Sequence Deletion, Genetics, Base Sequence, Chimera, General Medicine, Spinal muscular atrophy, Exons, medicine.disease, SMA, Phenotype, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, nervous system, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery, Gene Deletion, SMN2

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329888f5a4e88aac7dfd3b1b1e96cc8a
https://pubmed.ncbi.nlm.nih.gov/33036822

المؤلفون: Marcin Żarowski, Anna M. Jankowska, Aleksandra Śliwa, Anna Szczerba

المصدر: Child Neurology. 27:39-46

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Genetic enhancement, medicine, Geology, Ocean Engineering, Nusinersen, Spinal muscular atrophy, medicine.disease, business, Water Science and Technology, Smn gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bfb6355848a36cf1f637bb0a84833ef5
https://doi.org/10.20966/chn.2018.55.429

المؤلفون: Indra Sari Kusuma Harahap, Antoni Khosidik, Sri Sutarni, Indarwati Setyaningsih, Cempaka Thursina Srie Setyaningrum

المصدر: Journal of the Neurological Sciences. 429:118408

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Medicine, Neurology (clinical), business, Spinal muscular atrophy type II, Smn gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6d6a23703f85239e7f1d8be146f855e3
https://doi.org/10.1016/j.jns.2021.118408

المؤلفون: Isaku Omori, Utako Kondo, Yumi Uchida, Yoshihiko Shitara, Hiroki Kitaoka

المصدر: Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 62(1)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Paradoxical breathing, business.industry, Infant, Newborn, Oligonucleotides, Spinal muscular atrophy, Spinal Muscular Atrophies of Childhood, medicine.disease, Prognosis, Severity of Illness Index, Smn gene, Neonatal hypotonia, Treatment Outcome, Pediatrics, Perinatology and Child Health, medicine, Humans, Muscle Hypotonia, Nusinersen, business, Hand Deformities, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae44fdd7a73be0ebac0935361b9eada
https://pubmed.ncbi.nlm.nih.gov/31916364

مصطلحات موضوعية: SMN gene, Natural history, SMN protein, SMA, Spinal muscular atrophy, Biomarkers, SMN1, SMN2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::55d25e70dccfc1943c9b7e6969bcba55
https://hdl.handle.net/1874/357685

المؤلفون: Wadman, R.I.

المساهمون: van den Berg, Leonard, van der Pol, WL, University Utrecht

مصطلحات موضوعية: SMN gene, Natural history, SMN protein, SMA, Spinal muscular atrophy, Biomarkers, SMN1, SMN2

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5f2b444cd82774e2f3ff5e85a9d907c6
https://dspace.library.uu.nl/handle/1874/357685

المؤلفون: Gerta Vrbová, Urszula Sławińska

المصدر: Neuromuscular disorders : NMD. 28(5)

مصطلحات موضوعية: 0301 basic medicine, animal diseases, Period (gene), Mutant, 030105 genetics & heredity, Biology, Neuromuscular junction, Muscular Atrophy, Spinal, 03 medical and health sciences, Mice, 0302 clinical medicine, medicine, Animals, Humans, Muscle, Skeletal, Gene, Genetics (clinical), Motor Neurons, SMA, Survival of Motor Neuron 1 Protein, nervous system diseases, Smn gene, Cell biology, Motor unit, Survival of Motor Neuron 2 Protein, Disease Models, Animal, medicine.anatomical_structure, nervous system, Neurology, Pediatrics, Perinatology and Child Health, Motor neurone, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd174d31bda921f3d6cbf13d0becf81
https://pubmed.ncbi.nlm.nih.gov/29610000

المؤلفون: Laura Nanna Lohkamp, Karin Drossel, Brunhilde Wirth, Ulrike Grieben, Wolfram Kress, Werner Stenzel, Lutz Garbes, Frank L. Heppner, Katja von Au, Hans-Hilmar Goebel

المصدر: Journal of Child Neurology; Vol 29

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neuromuscular disease, Biopsy, DNA Mutational Analysis, SMN1, Spinal Muscular Atrophies of Childhood, Biology, Quadriceps Muscle, Diagnosis, Differential, Mice, 03 medical and health sciences, Exon, Atrophy, Gene duplication, medicine, Animals, Humans, Child, Sequence Deletion, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Neuromuscular Diseases, Spinal muscular atrophy, medicine.disease, SMA, Immunohistochemistry, Survival of Motor Neuron 1 Protein, Molecular biology, nervous system diseases, Smn gene, Survival of Motor Neuron 2 Protein, Muscular Atrophy, Phenotype, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::898a139df75b2cdd81280cfd8e96442b

المؤلفون: Sourour Ketata, Amir Boukhris, Imed Feki, Mohamed Amri, Nourhene Essid, Chokri Mhiri, Imen Rekik

المصدر: Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology, Vol 16, Iss 1, Pp 57-61 (2013)

مصطلحات موضوعية: business.industry, Neuronal apoptosis inhibitory protein (NAIP) gene, Prenatal diagnosis, Spinal muscular atrophy, SMN1, medicine.disease, SMA, Molecular biology, lcsh:RC346-429, Exon, Atrophy, medicine, Original Article, Neurology (clinical), NAIP, Restriction fragment length polymorphism, business, survival motor neuron (SMN) gene, lcsh:Neurology. Diseases of the nervous system, spinal muscular atrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ea39baf059e6d17c90c23259d2a01d
http://europepmc.org/articles/PMC3644783