Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Muscle Weakness and SMN2[original query] |
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| [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2008 Dec 46 (12): 919-23. Song Fang, Qu Yu-jin, Zou Li-ping, Wang Li-wen, Long Mei-juan, Wang Xu, Yang Yan-ling, Chen Qian, Wang Hong, Jin Yu-w |
| Genetic findings of Cypriot spinal muscular atrophy patients. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Oct 36 (10): 1829-34. Theodorou L, Nicolaou P, Koutsou P, Georghiou A, Anastasiadou V, Tanteles G, Kyriakides T, Zamba-Papanicolaou E, Christodoulou |
| Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain & development 2021 4 43 (7): 745-758. Wijaya Yogik Onky Silvana, Ar Rohmah Mawaddah, Niba Emma Tabe Eko, Morisada Naoya, Noguchi Yoriko, Hidaka Yasufumi, Ozasa Shiro, Inoue Takeshi, Shimazu Tomoyuki, Takahashi Yuya, Tozawa Takenori, Chiyonobu Tomohiro, Inoue Takushi, Shiroshita Tomoyoshi, Yokoyama Atsushi, Okamoto Kentaro, Awano Hiroyuki, Takeshima Yasuhiro, Saito Toshio, Saito Kayoko, Nishio Hisahide, Shinohara Masaka |
| Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024 5 51 17-23. Paula Steffens, Deike Weiss, Anna Perez, Manuel Appel, Philipp Weber, Claudia Weiss, Corinna Stoltenburg, Ute Ehinger, Maja von der Hagen, Jens Schallner, Birte Claussen, Ilka Lode, Andreas Hahn, Rahel Schuler, Lena Ruß, Andreas Ziegler, Jonas Denecke, Jessika Johanns |
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