نتائج البحث - "DSMA1"

1

دورية أكاديمية

New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

المؤلفون: E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov

المصدر: Нервно-мышечные болезни, Vol 6, Iss 2, Pp 52-57 (2016)

مصطلحات موضوعية: инфантильная моторно-сенсорная нейропатия 2s типа, инфантильная дыхательная недостаточность, экзомное секвенирование, дистальная спинальная амиотрофия, спинальная мышечная атрофия с параличом диафрагмы тип 1, smard1, dsma1, ighmbp2, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/155; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/db2ac48f7a8e477798861dafdd916429

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2

دورية أكاديمية

Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease

المؤلفون: Guenther, Ulf-Peter, Handoko, Lusy, Varon, Raymonda, Stephani, Ulrich, Tsao, Chang-Yong, Mendell, Jerry R., Lützkendorf, Susanne, Hübner, Christoph, von Au, Katja, Jablonka, Sibylle, Dittmar, Gunnar, Heinemann, Udo, Schuetz, Anja, Schuelke, Markus

المصدر: Journal of Molecular Medicine. January 2009 87(1):31-41

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3

دورية أكاديمية

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Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

المؤلفون: Irenaeus F.M. de Coo, Alice S. Brooks, Annemarie Fock, Rob H. J. M. Gooskens, Marianne de Visser, Richard J. Sinke, Corien C. Verschuuren-Bemelmans, Aad Verrips, Irina N. Snoeck, Saskia Bulk, Xenia Stalpers, Henny H. Lemmink, Bwee Tien Poll-The, Jan-Maarten Cobben

المساهمون: Neurology, Ethical, Legal, Social Issues in Genetics (ELSI), Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Neuroscience, Paediatric Neurology, Other Research, Human Genetics, Paediatric Genetics

المصدر: Neuromuscular Disorders, 23(6), 461-468. Elsevier Ltd.
Neuromuscular disorders, 23(6), 461-468. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular disorders, 23(6), 461-468. Elsevier Limited

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, IGHMBP2, Disease, Spinal Muscular Atrophies of Childhood, Muscular Atrophy, Spinal, Exon, MYOPATHY, SMARD1, DSMA1, medicine, LOCUS, Humans, Genetic Predisposition to Disease, Respiratory system, Myopathy, Genetics (clinical), Netherlands, Muscle contracture, Respiratory Distress Syndrome, Newborn, Muscle Weakness, Respiratory distress, business.industry, Chromosome Mapping, Infant, DIAPHRAGMATIC WEAKNESS, Spinal muscular atrophy, medicine.disease, GENE, Neurology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Spinal muscular atrophy with respiratory distress type 1, Immunoglobulin heavy chain, Female, Neurology (clinical), medicine.symptom, business, Transcription Factors