Publications
-
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: 14
-
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: 42
-
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: 5
-
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: 29
-
Parisi C, Candela-Cantó SA, Serrano M, Català-Temprano A, Aparicio J and Hinojosa J.
Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report
CHILDS NERVOUS SYSTEM . 36(11): 2851-2856. Number of citations: 3
-
López-Gálvez R, de la Morena-Barrio ME, López-Lera A, Pathak M, Miñano A, Serrano M, Borgel D, Roldán V, Vicente V, Emsley J and Corral J.
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 280-280. Number of citations: 9
-
Izquierdo-Serra M, Fernández-Fernández JM and Serrano M.
RareCACNA1Amutations leading to congenital ataxia
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY . 472(7): 791-809. Number of citations: 19
-
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol-Plana J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, SOGRI Consortium and Lapunzina P.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
EUROPEAN JOURNAL OF HUMAN GENETICS . 28(4): 469-479. Number of citations: 25
-
Ruiz-Llobet A, Isola I, Gassiot S, Català-Temprano A, Díaz-Ricart M, Martinez-Monseny T, Serrano M and Berrueco R.
Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood
THROMBOSIS AND HAEMOSTASIS . 120(3): 457-465. Number of citations: 5
-
Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Number of citations: 24