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Jaume Campistol

Observed names: J Campistol, J. Campistol
OpenAlex ID: A5112683084
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
2012 · Erin L Heinzen, Kathryn J Swoboda, et al. · Nature Genetics · 426
A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins
2011 · Aleix Navarro-Sastre, Frederic Tort, et al. · The American Journal of Human Genetics · 290
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · J M van de Kamp, O T Betsalel, et al. · Journal of Medical Genetics · 166
Validation of FDG-PET/MRI coregistration in nonlesional refractory childhood epilepsy
2011 · Sebastià Rubí, Xavier Setoain, et al. · Epilepsia · 85
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Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients
2012 · Aleix Navarro-Sastre, Frederic Tort, et al. · Molecular Genetics and Metabolism · 43
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease
2012 · Xènia Ferrer‐Cortès, Aida Font, et al. · Journal of Inherited Metabolic Disease · 36
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S
2003 · Roser Urreizti, Susana Balcells, et al. · Human Mutation · 30
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An atypical French form of pyruvate carboxylase deficiency
1995 · Merce Pineda, Jaume Campistol, et al. · Brain and Development · 25
CT Scan Appearance in Subacute Necrotising Encephalo‐myelopathy
1984 · J. Campistol, E. Fernandez Alvarez, et al. · Developmental Medicine & Child Neurology · 20
Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia
2001 · M.A. Vilaseca, K. Kobayashi, et al. · Molecular Genetics and Metabolism · 17
Disfunción neurológica inducida por bilirrubina
2010 · J. Campistol, H. Galvez, et al. · Neurología · 15
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
2022 · Gerard Muñoz‐Pujol, Juan D. Ortigoza‐Escobar, et al. · Brain Pathology · 12
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X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency
2010 · Judit García-Villoria, Laura Gort, et al. · European Journal of Human Genetics · 12
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Presurgical evaluation of drug-resistant paediatric focal epilepsy with PISCOM compared to SISCOM and FDG-PET
2022 · Javier Aparicio, Aida Niñerola-Baizán, et al. · Seizure · 10
Dystonia as a presenting sign of subacute necrotising encephalomyelopathy in infancy
1986 · J. Campistol, V. Cusi, et al. · European Journal of Pediatrics · 10
Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi
1998 · C. Busquets, M. J. Coll, et al. · Journal of Inherited Metabolic Disease · 9
Neurological dysfunction induced by bilirrubin
2012 · J. Campistol, H. Galvez, et al. · Neurología (English Edition) · 7
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Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes
2000 · Judith Mallolas, M. Antònia Vilaseca, et al. · Journal of Molecular Medicine · 6
CT appearance of low attenuation areas in basal ganglia in childhood: Report of 23 cases
1987 · J. Campistol, E. Fernandez-Alvarez, et al. · Computerized Medical Imaging and Graphics · 4
Reply to He et al
2010 · Judit García-Villoria, Laura Gort, et al. · European Journal of Human Genetics · 2
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Letters to the Editor
2003 · R Artuch, M A Vilaseca, et al. · Journal of Inherited Metabolic Disease · 1
Parasagittal Cerebral Injury: Comments on a Letter
2001 · J. Campistol · Journal of Child Neurology · 1
Author response for "Inheritance of c. 628‐6G >A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants"
2023 · Jordi Pijuan, Alba Vilanova‐Adell, et al. · Publons reviews and discussion
Author response for "Inheritance of c. 628‐6G >A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants"
2023 · Jordi Pijuan, Alba Vilanova‐Adell, et al. · Publons reviews and discussion
Author response for "MRX93 syndrome ( BRWD3 gene): five new patients with novel mutations"
2019 · Jair Tenorio, Pablo Alarcón, et al. · Publons reviews and discussion
Works count: 29
Citation count: 1,227
H-index: 12
I10-index: 15
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