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Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 5, 2018
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III miceSerena Pagliarani, Sabrina Lucchiari, Gianna Ulzi, et al.Journal of the Neurological Sciences|February 19, 2010
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairmentDario Ronchi, Roberta Virgilio, Andreina Bordoni, et al.Neuromuscular Disorders : NMD|May 23, 2001
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuriaR Cagliani, G P Comi, L Tancredi, et al.Biomedicines|May 27, 2023
Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid SamplesMegi Meneri, Elena Abati, Delia Gagliardi, et al.Human Molecular Genetics|September 6, 2013
Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis modelMonica Nizzardo, Chiara Simone, Federica Rizzo, et al.Journal of the Neurological Sciences|March 13, 2009
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological studyRoberta Virgilio, Dario Ronchi, Andreina Bordoni, et al.Orphanet Journal of Rare Diseases|June 18, 2023
SCARB1 downregulation in adrenal insufficiency with Allgrove syndromeGiacomo Bitetto, Gianluca Lopez, Dario Ronchi, et al.Nature|January 15, 1976
Presence of gene for beta globin in homozygous beta0 thalassaemiaP Tolstoshev, J Mitchell, G Lanyon, et al.Neurology|January 5, 2002
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO familyL Napoli, A Bordoni, M Zeviani, et al.Neurology|April 10, 2003
A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafnessM Crimi, S Galbiati, M P Perini, et al.Pageof 35