Carmen Paradas

Instituto de Salud Carlos III — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

28h-index2.5kcitations159works3.32yr avg
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Research Topics

Muscle Physiology and Disorders(67), Neurogenetic and Muscular Disorders Research(31), Cardiomyopathy and Myosin Studies(18), Glycogen Storage Diseases and Myoclonus(18), Nutrition and Health in Aging(15)

Publications157 total

Generation of the human iPSC line ESi148-A from a patient with sporadic amyotrophic lateral sclerosis
Stem Cell Research·2025Open Access
Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort
Neurología (English Edition)·2025Open Access
71PSafety of pyrimidine nucleos(t)ide therapy in Thymidine kinase 2 deficiency: an integrated analysis from a pooled dataset
Neuromuscular Disorders·2025· 1 cited
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice
PLoS Genetics·2025· 1 citedOpen Access
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Neurology Genetics·2025· 1 citedOpen Access
Utilization of patient-reported outcome measures in amyotrophic lateral sclerosis management: a cross-sectional study of Spanish neurologists
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration·2025
IMPACT OF SEXUALITY IN PATIENTS WITH MOTOR NEURON DISEASE
2025Open Access
Author Reply to Peer Reviews of The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice
2025
Computational Analysis of SOD1‐G93A Mouse Muscle Biomarkers for Comprehensive Assessment of ALS Progression
Neuropathology and Applied Neurobiology·2025
Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS)
Nature Communications·2025· 22 citedOpen Access
The glycosyltransferase POGLUT1 regulates muscle stem cell development and maintenance in mice
2024Open Access
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Brain·2024· 5 citedOpen Access
Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort
Neurología·2024· 1 citedOpen Access
20733. HISTORIA NATURAL DE PACIENTES CON ATROFIA MUSCULAR ESPINAL CON 3 Y 4 COPIAS DEL GEN SMN2. DATOS DEL REGISTRO NACIONAL ESPAÑOL (CUIDAME)
Neurology Perspectives·2024Open Access
201P Natural history of spinal muscular atrophy patients with 3 and 4 copies of SMN2 gene – data from the national Spanish registry (CUIDAME)
Neuromuscular Disorders·2024
202P Descriptive analysis of the spinal muscular atrophy population treated with Nusinersen included in the CuidAME project
Neuromuscular Disorders·2024
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
Brain·2024· 6 citedOpen Access
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2024· 3 citedOpen Access
A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity
Journal of Clinical Investigation·2024· 9 citedOpen Access
The Iberian Roma Population Variant Server (IRPVS)
Journal of genetics and genomics/Journal of Genetics and Genomics·2024
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Frequent Co-authors

Jordi Díaz‐Manera(20), Eduard Gallardo(12), Isabel Illa(12), Roberto Fernández‐Torrón(11), Tanya Stojkovic(10), Volker Straub(10), Eloy Rivas(10), Ricard Rojas‐García(9), U. Moore(9), Elena Pegoraro(9), Emilia Servián‐Morilla(9), Cristina Domínguez‐González(8), M. James(8), Anna Mayhew(8), Andrew M. Blamire(8), Pierre G. Carlier(8), Laura Rufibach(8), John Day(8), Kristi Jones(8), Diana Bharucha‐Goebel(8)