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1دورية أكاديمية
المصدر: The Application of Clinical Genetics, Vol Volume 17, Pp 71-84 (2024)
مصطلحات موضوعية: charcot-marie-tooth disease, mtmr2 gene, novel mutation, homozygous, whole exome sequencing, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://www.dovepress.com/identification-of-a-novel-homozygous-mutation-in-mtmr2-gene-causes-ver-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X
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2دورية أكاديمية
المؤلفون: Halperin, Daniel, Sapir, Aviad, Wormser, Ohad, Drabkin, Max, Yogev, Yuval, Dolgin, Vadim, Flusser, Hagit, Birk, Ohad S.Aff1, Aff3
المصدر: neurogenetics. 21(4):301-304
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3دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
4دورية أكاديمية
المصدر: Oman Medical Journal, Vol 31, Iss 3, Pp 227-230 (2016)
مصطلحات موضوعية: Optic Neuritis, Schwannoma, Charcot-Marie-Tooth Disease, Type 4B1, Mutation, MTMR2 Gene, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Manole, Andreea, Horga, Alejandro, Gamez, Josep, Raguer, Nuria, Salvado, Maria, San Millán, Beatriz, Navarro, Carmen, Pittmann, Alan, Reilly, Mary M., Houlden, Henry
المصدر: neurogenetics. January 2017 18(1):63-67
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6دورية أكاديمية
المؤلفون: Pratibha Narayanan, Meike Hütte, Galina Kudryasheva, Francisco J Taberner, Stefan G Lechner, Florian Rehfeldt, David Gomez-Varela, Manuela Schmidt
المصدر: eLife, Vol 7 (2018)
مصطلحات موضوعية: Piezo2, PI(3,5)P2, Mtmr2, mechanotransduction, somatosensation, peripheral sensory nerves, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2008 Mar . 105(12), 4916-4921.
URL الوصول: https://www.jstor.org/stable/25461522
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9دورية أكاديمية
المؤلفون: Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg, Bernard Brugg, Jocelyn Laporte, Anne Baron-Van Evercooren, Eric LeGuern
المصدر: Neurobiology of Disease, Vol 26, Iss 2, Pp 323-331 (2007)
مصطلحات موضوعية: MTMR2, Charcot–Marie–Tooth, RNAi, Schwann, Proliferation, Apoptosis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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10
المؤلفون: Sarah Leonard-Louis, Raquel Guimarães-Costa, Arnaud Lacour, Isabelle Husson, Guilhem Solé, Philippe Latour, Tanya Stojkovic, Rocío-Nur Villar-Quiles
المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), CHU Bordeaux [Bordeaux], Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU)
المصدر: Neuromuscular Disorders
Neuromuscular Disorders, 2020, 30 (7), pp.576-582. ⟨10.1016/j.nmd.2020.05.003⟩
Neuromuscular Disorders, Elsevier, 2020, 30 (7), pp.576-582. ⟨10.1016/j.nmd.2020.05.003⟩مصطلحات موضوعية: 0301 basic medicine, Weakness, Pediatrics, medicine.medical_specialty, Usher syndrome, [SDV]Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, medicine, Foot deformity, Genetics (clinical), MTMR2 gene, Bilateral facial palsy, business.industry, CMT, Disease progression, Confounding, medicine.disease, 3. Good health, Neuropathy, 030104 developmental biology, Neurology, Bulbar and facial weakness, Pediatrics, Perinatology and Child Health, Neurology (clinical), Presentation (obstetrics), medicine.symptom, business, Chiari Syndrome, 030217 neurology & neurosurgery, Usher