Publications
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Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez-Monseny T, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R and Morava E.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 5-28. Number of citations: 82
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Casas-Alba D, Martinez-Monseny T, Pino-Ramirez RM, Alsina L, Castejón Ponce E, Navarro S, Pérez-Dueñas B, Serrano M, Palau F and García-Alix A.
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations
HUMAN MUTATION . 39(12): 1752-1763. Number of citations: 28
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Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Neuropediatrics . 49(6): 408-413. Number of citations: 4
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Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.
Mutation of PACS1: the milder end of the spectrum
CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Number of citations: 16
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Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Number of citations: 34
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Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
ORPHANET JOURNAL OF RARE DISEASES . 12(1): 155-155. Number of citations: 13
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de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Number of citations: 14
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Serrano M.
Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome
Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.
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Requena-Méndez A, Goñi P, Rubio E, Pou D, Fumadó V, Lóbez S, Aldasoro E, Cabezos J, Valls ME, Treviño B, Martinez-Monseny T, Clavel A, Gascon J and Muñoz J.
The Use of Quinacrine in Nitroimidazole-resistant Giardia Duodenalis: An Old Drug for an Emerging Problem.
JOURNAL OF INFECTIOUS DISEASES . 215(6): 946-953. Number of citations: 29
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Casas-Alba D, Martinez-Monseny T, Monfort L, Munoz-Almagro C, Cabrerizo M, Deyà-Martinez A and Launes-Montana C.
EXTREME HYPERFERRITINEMIA IN DIZYGOTIC TWINS WITH HUMAN PARECHOVIRUS-3 INFECTION
PEDIATRIC INFECTIOUS DISEASE JOURNAL . 35(12): 1366-1368. Number of citations: 6