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1.
Synthetic Utilization of 2H-Heptafluoropropane: Ionic 1,4-Addition to Electron-Deficient Carbon-Carbon Unsaturated Bonds.
J Org Chem
; 89(6): 3962-3969, 2024 Mar 15.
Article
in English
| MEDLINE | ID: mdl-38443796
2.
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Am J Hum Genet
; 100(1): 169-178, 2017 Jan 05.
Article
in English
| MEDLINE | ID: mdl-28017374
3.
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
J Hum Genet
; 59(3): 163-72, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24451228
4.
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
J Neurol
; 269(8): 4129-4140, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35235001
5.
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
J Hum Genet
; 61(4): 363-4, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-27108959
6.
[Changing medical care for amyotrophic lateral sclerosis patients and cause of death - review of muscular dystrophy wards (1999-2013)].
Rinsho Shinkeigaku
; 61(3): 161-165, 2021 Mar 25.
Article
in Japanese
| MEDLINE | ID: mdl-33627584
7.
[An experience of administration of modafinil for excessive daytime sleepiness in a patient with myotonic dystorophy].
Rinsho Shinkeigaku
; 50(8): 578-80, 2010 Aug.
Article
in Japanese
| MEDLINE | ID: mdl-20803968
8.
Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1.
J Am Heart Assoc
; 9(17): e015709, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32812471
9.
[Nasal flaring during hypoxemia in myotonic dystrophy and duchenne muscular dystrophy].
Rinsho Shinkeigaku
; 49(5): 278-80, 2009 May.
Article
in Japanese
| MEDLINE | ID: mdl-19594107
10.
[Inpatients with facioscapulohumeral muscular dystrophy in specialized institutions in Japan from 1999 to 2013-Clinical condition changes and causes of death].
Rinsho Shinkeigaku
; 59(11): 716-722, 2019 Nov 08.
Article
in Japanese
| MEDLINE | ID: mdl-31656262
11.
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.
Neuromuscul Disord
; 27(6): 569-573, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28434908
12.
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.
Neuromuscul Disord
; 27(5): 477-480, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28214267
13.
Lhermitte's sign in alcoholic myelopathy without portosystemic shunting: MRI evaluation.
Intern Med
; 44(2): 153-4, 2005 Feb.
Article
in English
| MEDLINE | ID: mdl-15750278
14.
The characteristics of camptocormia in patients with Parkinson's disease: A large cross-sectional multicenter study in Japan.
J Neurol Sci
; 358(1-2): 299-303, 2015 Nov 15.
Article
in English
| MEDLINE | ID: mdl-26428310
15.
Brain volume analyses and somatosensory evoked potentials in multiple system atrophy.
J Neurol
; 257(3): 419-25, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-19789939
16.
Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.
Intern Med
; 47(4): 305-7, 2008.
Article
in English
| MEDLINE | ID: mdl-18277035
17.
Mental retardation and lifetime events of Duchenne muscular dystrophy in Japan.
Intern Med
; 47(13): 1207-10, 2008.
Article
in English
| MEDLINE | ID: mdl-18591841
18.
Heart rate variability and hypercapnia in Duchenne muscular dystrophy.
Intern Med
; 47(21): 1893-7, 2008.
Article
in English
| MEDLINE | ID: mdl-18981633
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