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Toxins
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September 26, 2025
Features of the First Case of Foodborne Botulism Caused by Dual-Toxin <i>Clostridium parabotulinum</i> Subtype A1(B5) in Spain
Sylvia Valdezate, Mónica Valiente, Gema Carrasco, et al.
Plos Genetics
|
August 18, 2025
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice
Soomin Cho, Emilia Servián-Morilla, Victoria Navarro, et al.
Orphanet Journal of Rare Diseases
|
October 3, 2021
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, et al.
Biorxiv : the Preprint Server for Biology
|
December 9, 2024
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice
Soomin Cho, Emilia Servián-Morilla, Victoria Navarro Garrido, et al.
Molecular Therapy. Nucleic Acids
|
August 31, 2023
Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche
Jose L Ortiz-Vitali, Jianbo Wu, Nasa Xu, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
July 3, 2024
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia
Fabiola Mavillard, Alejandra Guerra-Castellano, David Guerrero-Gómez, et al.
The Journal of Clinical Investigation
|
May 1, 2024
A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity
Massimo Buvoli, Genevieve Ck Wilson, Ada Buvoli, et al.
Muscle & Nerve
|
March 21, 2013
Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study
Luis Querol, Ricard Rojas-Garcia, Carlos Casasnovas, et al.
Acta Neuropathologica Communications
|
September 14, 2018
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, et al.
JAMA Neurology
|
February 10, 2015
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease
H Orhan Akman, Or Kakhlon, Jorida Coku, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 83) with videos related to
Sort By:
Page
of 9
Toxins
|
September 26, 2025
Features of the First Case of Foodborne Botulism Caused by Dual-Toxin <i>Clostridium parabotulinum</i> Subtype A1(B5) in Spain
Sylvia Valdezate, Mónica Valiente, Gema Carrasco, et al.
Plos Genetics
|
August 18, 2025
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice
Soomin Cho, Emilia Servián-Morilla, Victoria Navarro, et al.
Orphanet Journal of Rare Diseases
|
October 3, 2021
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, et al.
Biorxiv : the Preprint Server for Biology
|
December 9, 2024
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice
Soomin Cho, Emilia Servián-Morilla, Victoria Navarro Garrido, et al.
Molecular Therapy. Nucleic Acids
|
August 31, 2023
Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche
Jose L Ortiz-Vitali, Jianbo Wu, Nasa Xu, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
July 3, 2024
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia
Fabiola Mavillard, Alejandra Guerra-Castellano, David Guerrero-Gómez, et al.
The Journal of Clinical Investigation
|
May 1, 2024
A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity
Massimo Buvoli, Genevieve Ck Wilson, Ada Buvoli, et al.
Muscle & Nerve
|
March 21, 2013
Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study
Luis Querol, Ricard Rojas-Garcia, Carlos Casasnovas, et al.
Acta Neuropathologica Communications
|
September 14, 2018
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, et al.
JAMA Neurology
|
February 10, 2015
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease
H Orhan Akman, Or Kakhlon, Jorida Coku, et al.
Page
of 9