Publicaciones
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Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
NEUROBIOLOGY OF DISEASE . 216: 107098-107098.
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Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
JOURNAL OF CLINICAL INVESTIGATION . 135(19): .
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Bonet N, Mascaro JM Jr, Hurtado-Navarro L, Angosto-Bazarra D, Callejas-Rubio JL, Clemente D, Souto A, Lima O, Palmou-Fontana N, Baselga E, Jiménez-Treviño S, Remesal A, Andreu-Barasoain M, Fernandez-Dominguez L, Riera-Monroig J, Aparicio M, Garcia-Herrero J, Pesqué D, Sanchez-Calvin MT, Lezana-Rosales JM, Correyero-Plaza M, Garcia-Villalba J, Bolaño V, Peiro S, Diaz M, Vlagea A, Lorca D, Fabregat V, Anton MC, Plaza S, Gonzalez-Granado LI, Postigo C, de Morales JMG, de la Fuente EG, Iglesias-Jimenez E, Gomez-Roman J, Vázquez-Triñanes C, Lopez-Robledillo JC, Ortego-Centeno N, Giménez-Arnau AM, Campistol-Plana J, Laayouni H, de Landazuri IO, Yagüe-Ribes J, Gonzalez-Roca E, Mensa-Vilaro A, Fornas O, Ramos E, Pelegrin P, Casals F and Arostegui-Gorospe JI.
Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.
JOURNAL OF CLINICAL IMMUNOLOGY . 45(1): 134-134.
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Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology . : .
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Hipp JF, Bacino CA, Bird LM, Bruenig-Traebert I, Chan D, de Wit MC, Fontoura P, Hooper G, Jagasia R, Krishnan ML, Murtagh L, Noci A, Martínez AR, Schwab D, Serrano M, Shen MD, Tillmann J, Tjeertes J, Vincenzi B, Berry-Kravis E and Bonni A.
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.
NATURE MEDICINE . 31(9): 2936-2945. Nº de citas: 1
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Jáñez Pedrayes A, De Craemer S, Idkowiak J, Verdegem D, Thiel C, Barone R, Serrano M, Honzík T, Morava E, Vermeersch P, Foulquier F, Morelle W, Swinnen JV, Rymen D, Cassiman D, Ghesquière B and Witters P.
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
CELLULAR AND MOLECULAR LIFE SCIENCES . 82(1): 257-257.
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van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F and van Spronsen FJ.
European guidelines on diagnosis and treatment of phenylketonuria: First revision
MOLECULAR GENETICS AND METABOLISM . 145(2): 109125-109125. Nº de citas: 2
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Rebollo-Calderón B, Calvo-López A, Ormazabal-Herrero A, Artuch-Iriberri R, Rosell-Ferrer X, Alonso-Chamarro J and Puyol M.
Testing of a novel automated point-of-care analyzer for blood ammonium monitoring in a clinical setting
ANALYTICAL AND BIOANALYTICAL CHEMISTRY . 417(15): 3477-3485.
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Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome
CLINICAL GENETICS . 107(6): 646-662. Nº de citas: 2
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Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet-Janssen R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M and Sobering AK.
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . : .
