Publications
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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: 21
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Milisenda JC, García AM, Jou-Munoz C, Pinal-Fernandez I, O'Callaghan AS and Grau JM.
Sporadic inclusion body myositis: Diagnostic value of p62 immunostaining
MEDICINA CLINICA . 153(11): 437-440. Number of citations: 1
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Bazaga A, Roldan-Molina M, Badosa-Gallego MC, Jimenez-Mallebrera C and Porta JM.
A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies
APPLIED SOFT COMPUTING . 85: 105772. Number of citations: 5
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Girabent-Farrés M, Bagur-Calafat C, Amor-Barbosa M, Natera-de Benito D, Medina-Rincón A and Fagoaga J.
Spanish translation and validation of the Neuromuscular Module of the Pediatric Quality of Life Inventory (PedsQL): evaluation of the quality of life perceived by 5-7 years old children with neuromuscular disorders and by their parents
REVISTA DE NEUROLOGIA . 69(11): 442-452. Number of citations: 2
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Lázaro-Simó AI, Vicente-Villa MA, Martin-González M, Jou-Munoz C and González-Enseñat MA.
Adnexal polyp of neonatal skin: a forgotten diagnosis
INTERNATIONAL JOURNAL OF DERMATOLOGY . 58(12): 1466-1467.
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Milev MP, Stanga D, Schänzer A, Nascimento-Osorio A, Saint-Dic D, Ortez-Gonzalez CI, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou-Munoz C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M and Jimenez-Mallebrera C.
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
SCIENTIFIC REPORTS . 9: 14036-14036. Number of citations: 15
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Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D.
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165. Number of citations: 10
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Muntoni F, Desguerre I, Guglieri M, Nascimento-Osorio A, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL and Mercuri E.
Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry
JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH . 8(14): 1187-1200. Number of citations: 23
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Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou-Munoz C, Casado-Rio M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch-Iriberri R, Cabo R, Jackson S and Navas P.
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency
Journal of Clinical Medicine . 8(9): . Number of citations: 26
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Carrera-García L, Natera-de Benito D, Lleixà C, Ortez-Gonzalez CI, Colomer J, Nascimento-Osorio A, Saiz A, Dalmau J, Querol L and Armangue-Salvador T.
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 6(5): . Number of citations: 10