Filtros de búsqueda

Lista de obras de

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

artículo científico publicado en 2020

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Correction: Mutant Glycyl-tRNA Synthetase (Gars) Ameliorates SOD1 Motor Neuron Degeneration Phenotype but Has Little Affect on Loa Dynein Heavy Chain Mutant Mice

Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining

artículo científico publicado en 2008

Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

scholarly article by Sabina Gainotti et al published 21 September 2018 in International Journal of Environmental Research and Public Health

Modification of superoxide dismutase 1 (SOD1) properties by a GFP tag--implications for research into amyotrophic lateral sclerosis (ALS)

artículo científico publicado en 2010

Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice

artículo científico publicado en 2009

Optical control of muscle function by transplantation of stem cell-derived motor neurons in mice

artículo científico publicado en 2014

Recommendations for Improving the Quality of Rare Disease Registries

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

scientific article published on 12 July 2019

The legs at odd angles (Loa) mutation in cytoplasmic dynein ameliorates mitochondrial function in SOD1G93A mouse model for motor neuron disease

artículo científico publicado en 2010

Treatment with an antibody directed against Nogo-A delays disease progression in the SOD1G93A mouse model of Amyotrophic lateral sclerosis

artículo científico publicado en 2014

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda