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1.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35178824
2.
A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
Hum Mol Genet
; 24(7): 1883-97, 2015 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25468678
3.
Treatment with an antibody directed against Nogo-A delays disease progression in the SOD1G93A mouse model of Amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(16): 4187-200, 2014 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24667415
4.
The legs at odd angles (Loa) mutation in cytoplasmic dynein ameliorates mitochondrial function in SOD1G93A mouse model for motor neuron disease.
J Biol Chem
; 285(24): 18627-39, 2010 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-20382740
5.
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
Orphanet J Rare Dis
; 15(1): 206, 2020 08 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32787960
6.
Share and protect our health data: an evidence based approach to rare disease patients' perspectives on data sharing and data protection - quantitative survey and recommendations.
Orphanet J Rare Dis
; 14(1): 175, 2019 07 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31300010
7.
Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining.
Neurosci Lett
; 447(2-3): 172-4, 2008 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-18840504
8.
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
Int J Environ Res Public Health
; 15(10)2018 09 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-30248891
9.
Recommendations for Improving the Quality of Rare Disease Registries.
Int J Environ Res Public Health
; 15(8)2018 08 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30081484
10.
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
Orphanet J Rare Dis
; 16(1): 145, 2021 Mar 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33752678
11.
Optical control of muscle function by transplantation of stem cell-derived motor neurons in mice.
Science
; 344(6179): 94-7, 2014 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-24700859
12.
Modification of superoxide dismutase 1 (SOD1) properties by a GFP tag--implications for research into amyotrophic lateral sclerosis (ALS).
PLoS One
; 5(3): e9541, 2010 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-20221404
13.
Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice.
PLoS One
; 4(7): e6218, 2009 Jul 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-19593442
14.
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Dis Model Mech
; 2(7-8): 359-73, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19470612
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