Detalles de la búsqueda
1.
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.
Clin Genet
; 101(4): 448-453, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34988992
2.
[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies].
Beijing Da Xue Xue Bao Yi Xue Ban
; 46(5): 691-7, 2014 Oct 18.
Artículo
en Zh
| MEDLINE | ID: mdl-25331388
3.
[Value of muscle enzyme analysis in differential diagnosis of childhood myopathic hyper-creatine kinase-emia].
Beijing Da Xue Xue Bao Yi Xue Ban
; 46(1): 130-7, 2014 Feb 18.
Artículo
en Zh
| MEDLINE | ID: mdl-24535365
4.
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder.
Front Pediatr
; 11: 1160107, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37215601
5.
[Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene].
Zhongguo Dang Dai Er Ke Za Zhi
; 14(8): 561-6, 2012 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-22898272
6.
[Clinical characteristics and follow-up management of 135 children with myasthenia gravis].
Beijing Da Xue Xue Bao Yi Xue Ban
; 43(3): 455-9, 2011 Jun 18.
Artículo
en Zh
| MEDLINE | ID: mdl-21681282
7.
[Value of latex agglutination test in the diagnosis and treatment of cryptococcal meningitis in children].
Zhongguo Dang Dai Er Ke Za Zhi
; 13(2): 115-8, 2011 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-21342619
8.
Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.
Front Genet
; 12: 692479, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34413876
9.
[Genotype, phenotype analysis and follow-up study on patients with Duchenne/Becker muscular dystrophy].
Beijing Da Xue Xue Bao Yi Xue Ban
; 42(6): 661-6, 2010 Dec 18.
Artículo
en Zh
| MEDLINE | ID: mdl-21170096
10.
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Za Zhi
; 89(47): 3328-31, 2009 Dec 22.
Artículo
en Zh
| MEDLINE | ID: mdl-20193560
11.
[A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].
Zhongguo Dang Dai Er Ke Za Zhi
; 11(5): 333-6, 2009 May.
Artículo
en Zh
| MEDLINE | ID: mdl-19470250
12.
[Hypertension and erythromelalgia as prominent manifestations of mercury intoxication].
Beijing Da Xue Xue Bao Yi Xue Ban
; 39(4): 377-80, 2007 Aug 18.
Artículo
en Zh
| MEDLINE | ID: mdl-17657263
13.
[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Zhongguo Dang Dai Er Ke Za Zhi
; 9(3): 216-9, 2007 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-17582259
14.
Successive alterations of hippocampal gamma-aminobutyric acid B receptor subunits in a rat model of febrile seizure.
Life Sci
; 78(25): 2944-52, 2006 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-16380138
15.
Febrile seizure, but not hyperthermia alone, induces the expression of heme oxygenase-1 in rat cortex.
Chin Med J (Engl)
; 119(3): 191-6, 2006 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-16537003
16.
[Effect of gamma-aminobutyric acid B receptor on nitric oxide/nitric oxide synthase system during recurrent febrile seizures].
Beijing Da Xue Xue Bao Yi Xue Ban
; 38(2): 132-4, 2006 Apr 18.
Artículo
en Zh
| MEDLINE | ID: mdl-16617352
17.
[Effect of carbon monoxide and nitric oxide on the apoptosis of hippocampal neurons in rats with febrile seizures].
Zhongguo Dang Dai Er Ke Za Zhi
; 8(3): 231-4, 2006 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-16787598
18.
[Gamma-aminobutyric acid B receptor regulates the expression of hydrogen sulfide/cystathionine-beta-synthase system in recurrent febrile seizures].
Zhongguo Dang Dai Er Ke Za Zhi
; 8(2): 141-3, 2006 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-16613710
19.
Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.
Chin Med J (Engl)
; 134(12): 1495-1497, 2021 Mar 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33788782
20.
[Alteration of hydrogen sulfide/cystathionine-beta-synthase system in rats with recurrent febrile seizures].
Beijing Da Xue Xue Bao Yi Xue Ban
; 37(6): 579-81, 2005 Dec 18.
Artículo
en Zh
| MEDLINE | ID: mdl-16378105