Showing results (31-40 of 50) with videos related to
Sort By:
Pageof 5
Journal of Human Genetics|November 24, 2018
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathyTakuya Miyabayashi, Tatsuhiro Ochiai, Naoki Suzuki, et al.Brain & Development|August 24, 2014
Efficacy of long term weekly ACTH therapy for intractable epilepsyTakehiko Inui, Tomoko Kobayashi, Satoru Kobayashi, et al.Brain & Development|October 17, 2016
The first report of Japanese patients with asparagine synthetase deficiencyTakahiro Yamamoto, Wakaba Endo, Hidenori Ohnishi, et al.Brain & Development|July 4, 2021
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variantMoriei Shibuya, Saki Uneoka, Akira Onuma, et al.Journal of Human Genetics|March 21, 2018
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsySato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, et al.Molecular Genetics and Metabolism Reports|September 15, 2021
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic dietYurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, et al.Brain & Development|March 8, 2026
Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case reportYukimune Okubo, Noriko Togashi, Yuko Morishita, et al.Journal of the Neurological Sciences|March 6, 2016
FDG-PET study of patients with Leigh syndromeKauzhiro Haginoya, Tomohiro Kaneta, Noriko Togashi, et al.Journal of Human Genetics|March 8, 2019
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndromeSato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, et al.Epilepsy Research|September 4, 2018
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndromeKazuhiro Haginoya, Noriko Togashi, Tomohiro Kaneta, et al.Pageof 5