Publications
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Serrano M.
Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.
Frontiers in pediatrics . 9: 717864-717864. Number of citations: 6
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Cechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E and Sarafoglou K.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
MOLECULAR GENETICS AND METABOLISM . 133(4): 397-399. Number of citations: 3
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Rojano E, Córdoba-Caballero J, Jabato FM, Gallego D, Serrano M, Pérez B, Parés-Aguilar Á, Perkins JR, Ranea JAG and Seoane-Zonjic P.
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.
Journal of Personalized Medicine . 11(8): 730. Number of citations: 2
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Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Number of citations: 6
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García-García A, Buendia Arellano M, Deyà-Martinez A, Lozano-Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Luo Y, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP and Alsina L.
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features
PEDIATRIC ALLERGY AND IMMUNOLOGY . 32(3): 566-575. Number of citations: 4
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Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong-Moron J, Renieri A and Mari F.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
CLINICAL GENETICS . 99(3): 462-474. Number of citations: 12
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Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart-Lopez J, Cortes F, Hernando-Davalillo C, Montero-Sanchez R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S and Serrano M.
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
HUMAN MUTATION . 42(2): 142-149. Number of citations: 8
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Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Number of citations: 3
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Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P and Morava E.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 148-163. Number of citations: 32
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Gámez A, Serrano M, Gallego D, Vilas A and Pérez-Dueñas B.
New and potential strategies for the treatment of PMM2-CDG.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS . 1864(11): 129686-129686. Number of citations: 22