Beppu M - Search Results

1

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. Among authors: beppu m. J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18. J Hum Genet. 2018. PMID: 29915212 Clinical Trial.

2

Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31.

Ishige T, Sawai S, Itoga S, Sato K, Utsuno E, Beppu M, Kanai K, Nishimura M, Matsushita K, Kuwabara S, Nomura F. Ishige T, et al. Among authors: beppu m. J Hum Genet. 2012 Dec;57(12):807-8. doi: 10.1038/jhg.2012.112. Epub 2012 Sep 20. J Hum Genet. 2012. PMID: 22992774

3

Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients.

Yoshida K, Kuwabara S, Nakamura K, Abe R, Matsushima A, Beppu M, Yamanaka Y, Takahashi Y, Sasaki H, Mizusawa H; Research Group on Ataxic Disorders. Yoshida K, et al. Among authors: beppu m. J Neurol Sci. 2018 Jan 15;384:30-35. doi: 10.1016/j.jns.2017.11.008. Epub 2017 Nov 7. J Neurol Sci. 2018. PMID: 29249373 Free article.

4

Teaching NeuroImages: Cerebral cortex swelling in Creutzfeldt-Jakob disease with V180I mutation.

Sugiyama A, Beppu M, Kuwabara S. Sugiyama A, et al. Among authors: beppu m. Neurology. 2018 Jul 10;91(2):e185-e186. doi: 10.1212/WNL.0000000000005779. Neurology. 2018. PMID: 29987185 No abstract available.

5

Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3.

Sugiyama A, Sekiguchi Y, Beppu M, Ishige T, Matsushita K, Kuwabara S. Sugiyama A, et al. Among authors: beppu m. Intern Med. 2019 Jan 1;58(1):119-122. doi: 10.2169/internalmedicine.1382-18. Epub 2018 Aug 24. Intern Med. 2019. PMID: 30146593 Free PMC article.

6

Hidden Charcot-Marie-Tooth 1A as Revealed by Peripheral Nerve Imaging.

Shibuya K, Yoshida T, Misawa S, Sekiguchi Y, Beppu M, Amino H, Suzuki YI, Suichi T, Tsuneyama A, Nakamura K, Kuwabara S. Shibuya K, et al. Among authors: beppu m. Intern Med. 2019 Nov 1;58(21):3157-3161. doi: 10.2169/internalmedicine.3040-19. Epub 2019 Jul 10. Intern Med. 2019. PMID: 31292398 Free PMC article.

7

Prodromal muscle cramps predict rapid motor functional decline in amyotrophic lateral sclerosis.

Shibuya K, Misawa S, Sekiguchi Y, Beppu M, Amino H, Suichi T, Suzuki YI, Tsuneyama A, Kuwabara S. Shibuya K, et al. Among authors: beppu m. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):242-243. doi: 10.1136/jnnp-2018-318446. Epub 2018 May 18. J Neurol Neurosurg Psychiatry. 2019. PMID: 29777012 No abstract available.

8

Different electrophysiological profiles and treatment response in 'typical' and 'atypical' chronic inflammatory demyelinating polyneuropathy.

Kuwabara S, Isose S, Mori M, Mitsuma S, Sawai S, Beppu M, Sekiguchi Y, Misawa S. Kuwabara S, et al. Among authors: beppu m. J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1054-9. doi: 10.1136/jnnp-2014-308452. Epub 2014 Nov 25. J Neurol Neurosurg Psychiatry. 2015. PMID: 25424435

9

Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation.

Sugiyama A, Sawai S, Ito S, Mukai H, Beppu M, Yoshida T, Kuwabara S. Sugiyama A, et al. Among authors: beppu m. J Neurol Sci. 2015 Jul 15;354(1-2):131-2. doi: 10.1016/j.jns.2015.05.001. Epub 2015 May 8. J Neurol Sci. 2015. PMID: 25982497 No abstract available.

10

A study supporting possible expression of inward-rectifying potassium channel 2.1 channels in peripheral nerve in a patient with Andersen-Tawil syndrome.

Shibuya K, Tsuneyama A, Beppu M, Misawa S, Sekiguchi Y, Amino H, Suzuki YI, Suichi T, Nakamura K, Kuwabara S. Shibuya K, et al. Among authors: beppu m. Muscle Nerve. 2019 Apr;59(4):E28-E30. doi: 10.1002/mus.26430. Epub 2019 Feb 8. Muscle Nerve. 2019. PMID: 30681175 No abstract available.

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