المؤلفون: Ai Tsukamoto-Miyashiro, Koji Fujita, Masafumi Harada, Naoko Matsui, Ryuji Kaji, Takashi Abe, Toshitaka Kawarai, Tsuyoshi Matsuda, Waka Sakai, Wataru Sako, Yuishin Izumi, Yuka Terasawa

المصدر: Magnetic Resonance in Medical Sciences. 2017, 16(4):297

المؤلفون: Roberto Rumore, Carlo Caltagirone, Mizuki Kodama, Ichizo Nishino, Hiroki Yamazaki, Ai Tsukamoto-Miyashiro, Antonio Orlacchio, Toshitaka Kawarai, Kei Yamakami

مصطلحات موضوعية: AIFM1, business.industry, Novel missense variation, Ataxic sensory neuronopathy, Broad clinical and histopathological variations, Hearing impairment, Sensory system, Bioinformatics, Neurology, Medicine, Missense mutation, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ffa5bdde508a9215ef49b7a4efdd22aTest
http://hdl.handle.net/11391/1455101Test

المؤلفون: Waka Sakai, Koji Fujita, Yuishin Izumi, Naoko Matsui, Wataru Sako, Ai Tsukamoto-Miyashiro, Tsuyoshi Matsuda, Takashi Abe, Toshitaka Kawarai, Ryuji Kaji, Masafumi Harada, Yuka Terasawa

المصدر: Magnetic Resonance in Medical Sciences

مصطلحات موضوعية: In vivo magnetic resonance spectroscopy, Adult, Male, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Mescher–Garwood point-resolved spectroscopy, Creatine, Mescher-Garwood point-resolved spectroscopy, Asymptomatic, 030218 nuclear medicine & medical imaging, Colony stimulating factor 1 receptor, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Leukoencephalopathies, colony stimulating factor-1 receptor, Centrum semiovale, medicine, Humans, magnetic resonance imaging, Radiology, Nuclear Medicine and imaging, Aged, Retrospective Studies, Aspartic Acid, Brain Diseases, business.industry, Macrophage Colony-Stimulating Factor, Middle Aged, medicine.disease, hereditary diffuse leukoencephalopathy with spheroids, chemistry, Gliosis, Mutation, Hereditary diffuse leukoencephalopathy with spheroids, Female, medicine.symptom, business, Nuclear medicine, Asymptomatic carrier, 030217 neurology & neurosurgery, Major Paper

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac970a078d290fe1ec2ad2100f935b94Test
http://repo.lib.tokushima-u.ac.jp/116229Test

المؤلفون: Yoshihiko Nishida, Ryuji Kaji, Naoko Matsui, Ryosuke Oki, Antonio Orlacchio, Ryosuke Miyamoto, Ai Tsukamoto-Miyashiro, Yuishin Izumi, Atsuko Mori, Toshitaka Kawarai, Yoshimichi Miyazaki

مصطلحات موضوعية: Adult, Male, Hereditary spastic paraplegia, Nonsense-mediated decay, DNA Mutational Analysis, Nonsense-mediated mRNA decay, Biology, DNA sequencing, Exon, Aberrant transcript, medicine, Humans, splice, Exome sequencing, Spastic paraplegia, SPG11, Splice site donor mutation, Whole-exome sequencing, Neurology (clinical), Neurology, Genetics, Family Health, Paraplegia, Splice site mutation, Intron, Proteins, medicine.disease, Molecular biology, Magnetic Resonance Imaging, Introns, Mutation, Female, Settore MED/26 - Neurologia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87135f1cc38d5e95542286c4b208ae64Test
http://hdl.handle.net/2108/159286Test