Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Yoshihisa, Takiyama"'
Autor:
Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 946-957 (2024)
Abstract Objective Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early‐onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these case
Externí odkaz:
https://doaj.org/article/a933b528a8fe470791e3994a6a0b880c
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified the second ADCA family with a heterozygous GRID2 mutation. The Algerian family had c
Externí odkaz:
https://doaj.org/article/490dafaf0fb847b68d89cd5727b035b6
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ata
Externí odkaz:
https://doaj.org/article/2de1a4e4804d4d0097855afef05aabf7
Autor:
Akane Satake, Takamura Nagasaka, Takafumi Kurita, Hiroaki Murata, Takanori Hata, Hiroyuki Shinmura, Hirochika Matsubara, Kazumasa Shindo, Yoshihisa Takiyama
Publikováno v:
eNeurologicalSci, Vol 27, Iss , Pp 100395- (2022)
We report a 77-year-old woman with a thymoma, anti-LGI1antibody associated encephalitis (LGI1 encephalitis), and MG accompanied by positive anti-acetylcholine receptor antibodies (AchR Ab) and anti-titin antibodies (titin Ab). She was treated with th
Externí odkaz:
https://doaj.org/article/5c3bc55084934a8f8848ad2f1a676f57
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa ty
Externí odkaz:
https://doaj.org/article/3a0726ebaba047179a558007b48386e6
Autor:
Kazumasa Shindo, Yuto Morishima, Yumi Suwa, Toko Fukao, Takafumi Kurita, Akane Satake, Mai Tsuchiya, Yuta Ichinose, Takanori Hata, Kishin Koh, Takamura Nagasaka, Yoshihisa Takiyama
Publikováno v:
The Journal of Clinical Hypertension, Vol 23, Iss 1, Pp 175-178 (2021)
Abstract This study evaluated yearly changes in systolic blood pressure (SBP), diastolic blood pressure (DBP), and heart rates (HR) for patients with Parkinson's disease (PD). Data were collected for the last 10 years from medical records of 28 PD pa
Externí odkaz:
https://doaj.org/article/f6a9c89fcbb24158bb8a1d771260a69f
Autor:
Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs. We de
Externí odkaz:
https://doaj.org/article/bddeb86745e6419ea9205b1f861fbb32
Autor:
Kazumasa Shindo, Mai Tsuchiya, Takanori Hata, Yuta Ichinose, Kishin Koh, Jun Sone, Takamura Nagasaka, Gen Sobue, Yoshihisa Takiyama
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 11, Iss , Pp 103-106 (2019)
We report a case of neuronal intranuclear inclusion disease (NIID) confirmed by detection of intranuclear inclusions in a skin biopsy specimen. Brain magnetic resonance imaging showed mild cerebral atrophy and linear hyperintensities at the corticome
Externí odkaz:
https://doaj.org/article/e9a5d3c59d68434fbaa02c915b3bf077
Autor:
Kazumasa Shindo, Tohko Sato, Hiroaki Murata, Yuta Ichinose, Takanori Hata, Yoshihisa Takiyama
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-4 (2019)
Abstract Background Spinocerebellar ataxia type 31 (SCA 31) is a slowly progressive neurodegenerative disorder characterized by pure cerebellar ataxia. Unlike other CAG repeat diseases, sleep-related problems have not been reported in patients with S
Externí odkaz:
https://doaj.org/article/d910d56666b74e43ab109a91218427a2
Autor:
Yuta Ichinose, Takafumi Kurita, Akane Satake, Takahiro Natori, Kazumasa Shindo, Yoshihisa Takiyama
Publikováno v:
Heliyon, Vol 6, Iss 12, Pp e05600- (2020)
A 44-year-old female developed mild gait disturbance. She had a history of a ventricular septum defect, deafness, epilepsy, schizophrenia and cataracts. Magnetic resonance imaging showed ventriculomegaly of the brain and lower thoracic spinal stenosi
Externí odkaz:
https://doaj.org/article/22ef5bd7e3414c1e9a20330dfcc51433