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Manuel Roig-Quilis

Observed names: M Roig, M Roig Quilis, M Roig-Quilis, M. Roig, M. Roig Quilis, M. Roig-Quilis, MANUEL ROIG-QUILS, Manel Roig, Manel Roig Quilis, Manel Roig-Quilis, Manuel G. Roig, Manuel Roig, Manuel Roig Quilis, Roig M
Observed institutions: Universitat Autònoma de Barcelona, Hospital Sant Joan de Déu Barcelona, King's College London, Hospital de Sant Pau, Vall d'Hebron Institut de Recerca, Vall d'Hebron Hospital Universitari, University of Colorado Denver
OpenAlex ID: A5113726927
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
2014 · Susana Graciela Kalko, Sonia Paco, et al. · BMC Genomics · 131
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Urokinase-dependent plasminogen activation is required for efficient skeletal muscle regeneration in vivo
2001 · Frederic Lluı́s, Josep Roma, et al. · Blood · 112
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Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities
1980 · Mary Anne Guggenheim, Edward R. B. McCabe, et al. · Annals of Neurology · 99
Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy
1994 · Manuel Roig, Pere-Ramón Balliu, et al. · Pediatric Neurology · 78
uPA deficiency exacerbates muscular dystrophy in MDX mice
2007 · Mònica Suelves, Berta Vidal, et al. · The Journal of Cell Biology · 76
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene
2003 · Abelardo Solano, Manuel Roig, et al. · Annals of Neurology · 74
Muscle genome-wide expression profiling during disease evolution in mdx mice
2009 · Mario Marotta, Claudia Ruiz-Roig, et al. · Physiological Genomics · 67
Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes
2008 · E Cuenca-León, R Corominas, et al. · Cephalalgia · 65
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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
2012 · Jonàs Juan-Mateu, Maria José Rodríguez, et al. · Orphanet Journal of Rare Diseases · 58
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The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
1996 · Roser Pons, Manuel Roig, et al. · Pediatric Neurology · 55
Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study
1994 · Manuela Martinez, Isabel Mougan, et al. · Lipids · 55
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation
2010 · Aintzane Urbizu, Ester Cuenca-León, et al. · Journal of the Neurological Sciences · 54
Association study of the serotoninergic system in migraine in the spanish population
2009 · R. Corominas, M.J. Sobrido, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 52
Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study
2005 · A. Macaya, L. Brunso, et al. · Neuropediatrics · 36
Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia
2003 · Manuel Roig, Margarida Gratacòs, et al. · Developmental Medicine & Child Neurology · 35
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Longitudinal pathologic study of the gastrocnemius muscle group in mdx mice
2003 · Manuel Roig, Josep Roma, et al. · Acta Neuropathologica · 34
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
1998 · A. Ribes, E. Riudor, et al. · European Journal of Pediatrics · 34
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)
2002 · Roberto Fernandez-Hojas, Maryann L. Huie, et al. · Neuromuscular Disorders · 29
Bilateral striatal lesions in childhood
1993 · Manuel Roig, Matilde Calopa, et al. · Pediatric Neurology · 28
Laser microdissection-based expression analysis of key genes involved in muscle regeneration in mdx mice
2007 · Mario Marotta, Yaris Sarria, et al. · Neuromuscular Disorders · 27
Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: A benign form of infantile bilateral striatal necrosis
1990 · Manuel Roig, Alfons Macaya, et al. · The Journal of Pediatrics · 27
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
2022 · Agatha Schlüter, Agustí Rodríguez-Palmero, et al. · Neurology · 26
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Evolution of pathological changes in the gastrocnemius of the mdx mice correlate with utrophin and ?-dystroglycan expression
2004 · Josep Roma, Francina Munell, et al. · Acta Neuropathologica · 25
Leigh Syndrome and the Mitochondrial m.13513G>A Mutation
2012 · Laura Monlleo-Neila, Mireia del Toro, et al. · Journal of Child Neurology · 24
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
2006 · Mireia del Toro, José Antonio Arranz, et al. · Annals of Neurology · 23
Works count: 129
Citation count: 1,840
H-index: 24
I10-index: 51
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