المؤلفون: Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F, van der Pol, W Ludo, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, Servais, Laurent

المصدر: European Journal of Paediatric Neurology, 51, 73 - 78 (2024-07)

مصطلحات موضوعية: Adeno-associated viral vector, Disease modifying treatment, Effectiveness, Gene therapy, Newborn screening, Onasemnogene abeparvovec, Safety, Spinal muscular atrophy, Survival motor neuron gene, Zolgensma®, Zolgensma, Biological Products, Recombinant Fusion Proteins, Humans, Europe, Consensus, Biological Products/therapeutic use, Spinal Muscular Atrophies of Childhood/therapy, Spinal Muscular Atrophies of Childhood/genetics, Genetic Therapy/methods, Muscular Atrophy, Spinal/therapy, Muscular Atrophy, Spinal/genetics, Genetic Therapy, Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood, Pediatrics, Perinatology and Child Health, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://api.elsevier.com/content/article/PII:S1090379824000874?httpAccept=text/xml; urn:issn:1090-3798; urn:issn:1532-2130

URL الوصول: https://orbi.uliege.be/handle/2268/325009

المؤلفون: Bartoli, Marc, Bailey, Rachel, M, Meyer, Kathrin, Barthélémy, Florian

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 2296-634X ; Frontiers in Cell and Developmental Biology ; https://hal.science/hal-04728455 ; Frontiers in Cell and Developmental Biology, 2023, 11, ⟨10.3389/fcell.2023.1329048⟩.

مصطلحات موضوعية: muscle motor neuron gene editing gene transfer drug repurposing neuromuscular disease (NMD) disease modeling therapy screening, muscle, motor neuron, gene editing, gene transfer, drug repurposing, neuromuscular disease (NMD), disease modeling, therapy screening, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

الاتاحة: https://hal.science/hal-04728455
https://hal.science/hal-04728455v1/document
https://hal.science/hal-04728455v1/file/fcell-11-1329048.pdf
https://doi.org/10.3389/fcell.2023.1329048

المؤلفون: Ali Mohammadi Nafchi, Neda

مصطلحات موضوعية: 616.7, Biomedical science, Gene therapy, Gene addition, Lentiviral vectors, In utero, Spinal muscular atrophy, Survival motor neuron gene

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.792689

المؤلفون: van der Heul, A. M.B., van Eijk, R. P.A., Wadman, R. I., Asselman, F., Cuppen, I., Nievelstein, R. A.J., Gerrits, E., van der Pol, W. L., van den Engel-Hoek, L.

المساهمون: Projectafdeling ALS, Biostatistiek Onderzoek, Brain, Neurologen, Verpleegkundig Specialisten, Arts-assistenten Radiologie, Other research (not in main researchprogram)

مصطلحات موضوعية: Deglutition, Deglutition disorders, Mastication, Oral motor function, Spinal muscular atrophy, Survival motor neuron gene, Otorhinolaryngology, Gastroenterology, Speech and Hearing

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/443401

الاتاحة: https://dspace.library.uu.nl/handle/1874/443401

المؤلفون: Moisse, Matthieu, Landers, John E, Van Damme, Philip

المساهمون: Department of Neurology

المصدر: Annals of neurology ; 89 ; 4 ; 686-697

مصطلحات موضوعية: motor neuron gene, SMN, amyotrophic lateral sclerosis, Amino Acids, Peptides, and Proteins, Genetics and Genomics, Molecular and Cellular Neuroscience, Nervous System Diseases, Neurology

Relation: Link to Article in PubMed; Moisse M, Zwamborn RAJ, van Vugt J, van der Spek R, van Rheenen W, Kenna B, Van Eijk K, Kenna K, Corcia P, Couratier P, Vourc'h P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Chen X, Eberle MA, Al-Chalabi A, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, Robberecht W, van Es M, van den Berg L, Veldink J, Van Damme P; Project MinE Sequencing Consortium. The Effect of SMN Gene Dosage on ALS Risk and Disease Severity. Ann Neurol. 2021 Apr;89(4):686-697. doi:10.1002/ana.26009. Epub 2021 Jan 15. PMID: 33389754; PMCID: PMC8048961. Link to article on publisher's site; 0364-5134 (Linking); http://hdl.handle.net/20.500.14038/41863; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5700&context=oapubs&unstamped=1; https://escholarship.umassmed.edu/oapubs/4668; oapubs/4668

الاتاحة: https://doi.org/10.1002/ana.26009
https://hdl.handle.net/20.500.14038/41863
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5700&context=oapubs&unstamped=1
https://escholarship.umassmed.edu/oapubs/4668

المؤلفون: Miaojin Zhou, Shuqing Tang, Nannan Duan, Mi Xie, Zhuo Li, Mai Feng, Lingqian Wu, Zhiqing Hu, Desheng Liang

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 7941

مصطلحات موضوعية: spinal muscular atrophy, survival motor neuron gene 2, intronic splicing silencer-N1, prime editing, targeted-deletion, induced pluripotent stem cells, motor neurons, endoplasmic reticulum stress

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23147941

الاتاحة: https://doi.org/10.3390/ijms23147941

المؤلفون: Müller-Felber, W., Vill, K., Schwartz, O., Blaschek, A., Nennstiel, U., Schara, U., Hoffmann, G. F., Gläser, D., Becker, M., Röschinger, W., Bernert, G., Klein, A., Kölbel, H.

المصدر: http://lobid.org/resources/99370679162206441#!, 1-6.

مصطلحات موضوعية: Gentherapie, Gene therapy, Screening-Programm, Survival motor neuron gene, Präsymptomatische Behandlung, Übersichten, SMN2-Kopienzahl-Variation, Screening-program, Presymptomatic treatment

Relation: https://repository.publisso.de/resource/frl:6448245; https://doi.org/10.1007/s00112-021-01165-1

الاتاحة: https://repository.publisso.de/resource/frl:6448245
https://doi.org/10.1007/s00112-021-01165-1

المؤلفون: Heul, Anne Marise Barbara van der

المساهمون: Pol, W.L. van der, Gerrits, P.A.M., Engel-Hoek, L. van den

مصطلحات موضوعية: spinal muscular atrophy, SMN, survival motor neuron gene, dysphagia, bulbar function, oral motor function, deglutition disorder, mastication disorder, videofluoroscopic study, muscle ultrasound

وصف الملف: text/plain

Relation: https://dspace.library.uu.nl/handle/1874/433565

الاتاحة: https://dspace.library.uu.nl/handle/1874/433565

المؤلفون: Mehmet Canpolat, Hüseyin Per, Munis Dundar

المصدر: Güncel Pediatri, Vol 14, Iss 1, Pp 18-22 (2016)

مصطلحات موضوعية: newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys (50%) and 19 girls (50%). The mean age of patients was 26.9±25.7 months (range: 3-96 months). The mean follow-up period was 12.2±13.3 months (range: 2-48 months). According to SMA classification, 22 patients (57.8%) were type 1, 8 patients (21.1%) were type 2, and 8 patients were (21.1%) type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, Prognostic factors, spinal muscular atrophy, survival motor neuron gene 1, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.guncelpediatri.com/makale_10557/Spinal-Muskuler-Atrofi-Olgularinin-Klinik-Ozellikleri; https://doaj.org/toc/1304-9054

URL الوصول: https://doaj.org/article/3555bcb204bb40f2b523b83eb44b2a6e

المؤلفون: Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, Kölbel, Heike

المصدر: Journal of Neuromuscular Diseases
J Neuromuscul Dis

مصطلحات موضوعية: Male, Research Report, newborn screening, Medizin, Infant, Newborn, Infant, Pilot Projects, Spinal muscular atrophy, Survival of Motor Neuron 1 Protein, Pedigree, nervous system diseases, Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Neonatal Screening, survival motor neuron gene, Germany, Humans, Female, Erratum, Follow-Up Studies, SMN2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::523c30de4c054b76ae2531d24d6c2a81
http://europepmc.org/articles/PMC7175938

المؤلفون: Magali Michaud, Thomas Arnoux, Serena Bielli, Estelle Durand, Yann Rotrou, Sibylle Jablonka, Fabrice Robert, Marc Giraudon-Paoli, Markus Riessland, Marie-Geneviève Mattei, Emile Andriambeloson, Brunhilde Wirth, Michael Sendtner, Jorge Gallego, Rebecca M. Pruss, Thierry Bordet

المصدر: Neurobiology of Disease, Vol 38, Iss 1, Pp 125-135 (2010)

مصطلحات موضوعية: Spinal muscular atrophy, Motor neuron disease, Mouse model, Survival motor neuron gene, Neurodegeneration, Behavior, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996110000082; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/3036b72971154587972567e407e550ca

المؤلفون: Canpolat, Mehmet, Bayram, Ayşe Kaçar, Bahadır, Oğuzhan, Per, Hüseyin, Gümüş, Hakan, Dundar, Munis, Kumandaş, Sefer

مصطلحات موضوعية: Prognostik faktörler, Spinal musküler atrofi, Survival motor nöron gen 1, Prognostic factors, Spinal muscular atrophy, Survival motor neuron gene 1

وصف الملف: application/pdf

Relation: Makale - Uluslararası Hakemli Dergi; Güncel Pediatri / The Journal of Current Pediatrics; Canpolat, M. vd. (2016). "Spinal musküler atrofi olgularının klinik özellikleri". Güncel Pediatri, 14(1), 18-22.; https://dergipark.org.tr/tr/download/article-file/902882; http://hdl.handle.net/11452/11154; 18; 22; 14

الاتاحة: http://hdl.handle.net/11452/11154
https://dergipark.org.tr/tr/download/article-file/902882

المؤلفون: Kızmaz, Hadi

المساهمون: Aktar, Fesih

مصطلحات موضوعية: Çocuk palyatif yoğun bakım, Genetik, Spinal musküler atrofi, Survival motor nöron geni, Gen taraması, Pediatric palliative intensive care, Genetics, Spinal muscular atrophy, Survival motor neuron gene, Screening

وصف الملف: application/pdf

Relation: Tez; Kızmaz, H. (2022). Genel ve palyatif çocuk yoğun bakım ünitelerinde yatan spinal musküler atrofi tanılı hastaların değerlendirilmesi. Yayımlanmamış uzmanlık tezi, Dicle Üniversitesi, Diyarbakır.; file:///C:/Users/User/Downloads/750195.pdf; https://hdl.handle.net/11468/10728

الاتاحة: https://hdl.handle.net/11468/10728

المؤلفون: Rosana Herminia Scola, Lineu Cesar Werneck, Fabio Massaiti Iwamoto, Letícia Cristine Ribas, Salmo Raskin, Ylmar Correa Neto

المصدر: Arquivos de Neuro-Psiquiatria, Vol 59, Iss 2A, Pp 259-262 (2001)

مصطلحات موضوعية: congenital contractural arachnodactyly, spinal muscular atrophy, motor neuron disease, survival motor neuron gene, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022&tlng=en; http://www.scielo.br/pdf/anp/v59n2a/a22v592a.pdf; https://doaj.org/toc/1678-4227

URL الوصول: https://doaj.org/article/d1923be6f4fb45b38af6153136eff9f9

المؤلفون: Calì,F, Ruggeri,G, Chiavetta,V, Scuderi,C, Bianca,S, Barone,C, Ragalmuto,A, Schinocca,P, Vitello,GA, ROMANO, Valentino, Musumeci,S

المساهمون: Calì,F, Ruggeri,G, Chiavetta,V, Scuderi,C, Bianca,S, Barone,C, Ragalmuto,A, Schinocca,P, Vitello,GA, Romano,V, Musumeci,S

مصطلحات موضوعية: survival motor neuron gene (SMN1), spinal muscular atrophy, carrier screening, MLPA, Settore BIO/13 - Biologia Applicata

Relation: info:eu-repo/semantics/altIdentifier/pmid/24840836; info:eu-repo/semantics/altIdentifier/wos/WOS:000337252700019; volume:93; issue:1; firstpage:179; lastpage:181; numberofpages:3; journal:JOURNAL OF GENETICS; http://hdl.handle.net/10447/98880

الاتاحة: http://hdl.handle.net/10447/98880

المؤلفون: Maryam Sedghi, Mahdiyeh Behnam, Esmat Fazel, Mansoor Salehi, Hamid Ganji, Rokhsareh Meamar, Majid Hosseinzadeh, Nayereh Nouri

المصدر: Advanced Biomedical Research, Vol 3, Iss 1, Pp 74-74 (2014)

مصطلحات موضوعية: Deletion, neuronal apoptosis inhibitory protein gene, severity, spinal muscular atrophy, survival motor neuron gene, Medicine, Biology (General), QH301-705.5

Relation: http://www.advbiores.net/article.asp?issn=2277-9175;year=2014;volume=3;issue=1;spage=74;epage=74;aulast=Sedghi; https://doaj.org/toc/2277-9175; https://doaj.org/article/953373c90fc94009b338c570362c3d4b

الاتاحة: https://doi.org/10.4103/2277-9175.125872
https://doaj.org/article/953373c90fc94009b338c570362c3d4b

المؤلفون: Jessie Pichardo, Rubén Blanco, Hassan Abdullah

المصدر: Cureus

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Flaccid paralysis, Genetic counseling, SMN1, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Atrophy, survival motor neuron gene, Internal Medicine, Medicine, hypotonia, motor neuron, business.industry, electroneuromyography, General Engineering, Electromyoneurography, Spinal muscular atrophy, medicine.disease, SMA, Hypotonia, Neurology, muscular atrophy, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f55c4138930c17116853a1b207051f7c
http://europepmc.org/articles/PMC7733768

المؤلفون: Scola, Rosana Herminia, Werneck, Lineu Cesar, Iwamoto, Fabio Massaiti, Ribas, Letícia Cristine, Raskin, Salmo, Correa Neto, Ylmar

المصدر: Arquivos de Neuro-Psiquiatria. June 2001 59(2A)

مصطلحات موضوعية: congenital contractural arachnodactyly, spinal muscular atrophy, motor neuron disease, survival motor neuron gene

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000200022

المؤلفون: D Maiti, M Bhattacharya, S Yadav

المصدر: Journal of Postgraduate Medicine, Vol 58, Iss 4, Pp 294-295 (2012)

مصطلحات موضوعية: Exon 7, exon 8, optic atrophy, survivor motor neuron gene, spinal muscular atrophy, Medicine

Relation: http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2012;volume=58;issue=4;spage=294;epage=295;aulast=Maiti; https://doaj.org/toc/0022-3859; https://doaj.org/toc/0972-2823; https://doaj.org/article/800487cc8745443f8be6e26b7faa01b2

الاتاحة: https://doi.org/10.4103/0022-3859.105451
https://doaj.org/article/800487cc8745443f8be6e26b7faa01b2

المؤلفون: Tizzano, Eduardo, Also-Rallo, Eva, Alias, Laura, Martínez-Hernández, Rebeca, Caselles, Lidia, Barceló, Maria J, Baiget, Montserrat, Bernal, Sara

المساهمون: Genetics

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: Spinal muscualr atrophy, survival motor neuron gene, upregulation

Relation: hal-00644704; https://hal.archives-ouvertes.fr/hal-00644704; https://hal.archives-ouvertes.fr/hal-00644704/document; https://hal.archives-ouvertes.fr/hal-00644704/file/PEER_stage2_10.1038%252Fejhg.2011.89.pdf

الاتاحة: https://hal.archives-ouvertes.fr/hal-00644704
https://hal.archives-ouvertes.fr/hal-00644704/document
https://hal.archives-ouvertes.fr/hal-00644704/file/PEER_stage2_10.1038%252Fejhg.2011.89.pdf
https://doi.org/10.1038/ejhg.2011.89