Kimura K - Search Results

1

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: kimura k. Clin Genet. 2018 Dec;94(6):538-547. doi: 10.1111/cge.13454. Clin Genet. 2018. PMID: 30280376

2

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M. Kimura K, et al. Brain Dev. 2005 Sep;27(6):424-30. doi: 10.1016/j.braindev.2004.11.005. Epub 2005 Jan 12. Brain Dev. 2005. PMID: 16122630

3

Very-Low-Dose Levodopa Therapy for Pediatric Neurological Disorders: A Preliminary Questionnaire in Japan.

Hoshino K, Hayashi M, Ishizaki A, Kimura K, Kubota M, Nezu A, Yasuhara A. Hoshino K, et al. Among authors: kimura k. Front Pediatr. 2021 Mar 4;9:569594. doi: 10.3389/fped.2021.569594. eCollection 2021. Front Pediatr. 2021. PMID: 33748036 Free PMC article.

4

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations.

Hoshino K, Sweadner KJ, Kawarai T, Saute JA, Freitas J, Damásio J, Donis KC, Kimura K, Fukuda H, Hayashi M, Higuchi T, Ikeda Y, Ozelius LJ, Kaji R. Hoshino K, et al. Among authors: kimura k. Neurol Genet. 2021 Mar 15;7(2):e562. doi: 10.1212/NXG.0000000000000562. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33977143 Free PMC article. No abstract available.

5

Pre-movement gating of somatosensory evoked potentials in Tourette syndrome.

Kimura K, Murase N, Nagao Y, Nozaki M, Fukumizu M, Kita Y, Hayashi M, Hoshino K. Kimura K, et al. Brain Dev. 2023 Jun;45(6):324-331. doi: 10.1016/j.braindev.2023.02.002. Epub 2023 Mar 4. Brain Dev. 2023. PMID: 36878743

6

The Pathophysiology of Gilles de la Tourette Syndrome: Changes in Saccade Performance by Low-Dose L-Dopa and Dopamine Receptor Blockers.

Terao Y, Nomura Y, Fukuda H, Hikosaka O, Kimura K, Matsuda SI, Yugeta A, Fisicaro F, Hoshino K, Ugawa Y. Terao Y, et al. Among authors: kimura k. Brain Sci. 2023 Nov 25;13(12):1634. doi: 10.3390/brainsci13121634. Brain Sci. 2023. PMID: 38137082 Free PMC article.

7

Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.

Nakamura H, Doi H, Miyaji Y, Wada T, Takahashi E, Tada M, Fukuda H, Fujita A, Higashiyama Y, Nagao Y, Kimura K, Hayashi M, Hoshino K, Matsumoto N, Tanaka F. Nakamura H, et al. Among authors: kimura k. BMC Neurol. 2024 Sep 4;24(1):310. doi: 10.1186/s12883-024-03823-9. BMC Neurol. 2024. PMID: 39232641 Free PMC article.

8

[Neonatal herpes simplex encephalitis with bilateral temporal mega cystic lesion].

Nagao Y, Kimura K, Hachimori K, Oba H, Hoshino K. Nagao Y, et al. Among authors: kimura k. No To Hattatsu. 2017 Jan;49(1):53-4. No To Hattatsu. 2017. PMID: 30011157 Japanese. No abstract available.

9

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Singh S, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S. Singh S, et al. Among authors: kimura k. J Hum Genet. 2005;50(7):347-352. doi: 10.1007/s10038-005-0263-7. Epub 2005 Jul 15. J Hum Genet. 2005. PMID: 16021330

10

Epilepsy in autism: A pathophysiological consideration.

Nomura Y, Nagao Y, Kimura K, Hachimori K, Segawa M. Nomura Y, et al. Among authors: kimura k. Brain Dev. 2010 Nov;32(10):799-804. doi: 10.1016/j.braindev.2010.08.001. Brain Dev. 2010. PMID: 20805019

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