Gene therapies in pediatrics
Andoni Urtizberea, J.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2023)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2023)
Get full text
Journal Article
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
Beijer, Danique, Deconinck, Tine, De Bleecker, Jan L, Dotti, Maria Teresa, Malandrini, Alessandro, Urtizberea, J Andoni, Zulaica, Miren, López de Munain, Adolfo, Asselbergh, Bob, De Jonghe, Peter, Baets, Jonathan
Published in Brain (London, England : 1878) (01.09.2019)
Published in Brain (London, England : 1878) (01.09.2019)
Get full text
Journal Article
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
JOHNSON, Janel O, RAPHAEL GIBBS, J, REILLY, Mary M, MUNTONI, Francesco, ABRAMZON, Yevgeniya, HOULDEN, Henry, SINGLETON, Andrew B, MEGARBANE, Andre, ANDONI URTIZBEREA, J, HERNANDEZ, Dena G, REGHAN FOLEY, A, AREPALLI, Sampath, PANDRAUD, Amelie, SIMON-SANCHEZ, Javier, CLAYTON, Peter
Published in Brain (London, England : 1878) (01.09.2012)
Published in Brain (London, England : 1878) (01.09.2012)
Get full text
Journal Article
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
LeMerrer, Martine, Zasloff, Michael, Morhart, Rolf, Kaplan, Frederick S, Cho, Tae-Joon, Choi, In Ho, Glaser, David L, Connor, J Michael, Smith, Roger, Triffitt, James T, Shore, Eileen M, Urtizberea, J Andoni, Feldman, George J, Xu, Meiqi, Delai, Patricia, Rogers, John G, Fenstermacher, David A, Brown, Matthew A
Published in Nature genetics (01.05.2006)
Published in Nature genetics (01.05.2006)
Get full text
Journal Article
The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy: A case series
Villar-Quiles, Rocio N, von der Hagen, Maja, Métay, Corinne, Gonzalez, Victoria, Donkervoort, Sandra, Bertini, Enrico, Castiglioni, Claudia, Chaigne, Denys, Colomer, Jaume, Cuadrado, Maria Luz, de Visser, Marianne, Desguerre, Isabelle, Eymard, Bruno, Goemans, Nathalie, Kaindl, Angela, Lagrue, Emmanuelle, Lütschg, Jürg, Malfatti, Edoardo, Mayer, Michèle, Merlini, Luciano, Orlikowski, David, Reuner, Ulrike, Salih, Mustafa A, Schlotter-Weigel, Beate, Stoetter, Mechthild, Straub, Volker, Topaloglu, Haluk, Urtizberea, J Andoni, van der Kooi, Anneke, Wilichowski, Ekkehard, Romero, Norma B, Fardeau, Michel, Bönnemann, Carsten G, Estournet, Brigitte, Richard, Pascale, Quijano-Roy, Susana, Schara, Ulrike, Ferreiro, Ana
Published in Neurology (15.09.2020)
Published in Neurology (15.09.2020)
Get more information
Journal Article
Impact of restricted access to, and low awareness of, mexiletine on people with myotonia: a real-world European survey
Díaz-Manera, Jordi, Urtizberea, J. Andoni, Schey, Carina, Kole, Anna, von Gallwitz, Philipp, Whiting, Amy, Foerster, Douglas, Zozulya-Weidenfeller, Alla
Published in Neuromuscular disorders : NMD (01.02.2023)
Published in Neuromuscular disorders : NMD (01.02.2023)
Get full text
Journal Article
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Zaharieva, Irina T., Sarkozy, Anna, Munot, Pinki, Manzur, Adnan, O'Grady, Gina, Rendu, John, Malfatti, Eduardo, Amthor, Helge, Servais, Laurent, Urtizberea, J. Andoni, Neto, Osorio Abath, Zanoteli, Edmar, Donkervoort, Sandra, Taylor, Juliet, Dixon, Joanne, Poke, Gemma, Foley, A. Reghan, Holmes, Chris, Williams, Glyn, Holder, Muriel, Yum, Sabrina, Medne, Livija, Quijano‐Roy, Susana, Romero, Norma B., Fauré, Julien, Feng, Lucy, Bastaki, Laila, Davis, Mark R., Phadke, Rahul, Sewry, Caroline A., Bönnemann, Carsten G., Jungbluth, Heinz, Bachmann, Christoph, Treves, Susan, Muntoni, Francesco
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
Get full text
Journal Article
Web Resource
The Second Baltic School of Neuromyology
Andoni Urtizberea, J, Malfatti, Edoardo, Carlier, Pierre G
Published in M.S. Médecine sciences (16.01.2023)
Published in M.S. Médecine sciences (16.01.2023)
Get full text
Journal Article
The SMA France national registry: already encouraging results
Lemoine, Margaux, Gomez, Marta, Grimaldi, Lamiae, Urtizberea, J Andoni, Quijano-Roy, Susana
Published in M.S. Médecine sciences (08.12.2021)
Published in M.S. Médecine sciences (08.12.2021)
Get full text
Journal Article
What is the Next Step after an Electrodiagnostic Study in Children with Polyneuropathies? Rationale for Laboratory and Other Diagnostic Tests
Babaee, Marzieh, Urtizberea, J Andoni, Fatehi, Farzad, Rayegani, Seyed Mansoor
Published in Iranian journal of child neurology (01.01.2023)
Published in Iranian journal of child neurology (01.01.2023)
Get full text
Journal Article
STAC3 related congenital myopathy: A case series of seven Comorian patients
Gromand, Marie, Gueguen, Paul, Pervillé, Anne, Ferroul, Fanny, Morel, Godelieve, Harouna, Anrifati, Doray, Bérénice, Urtizberea, J. Andoni, Alessandri, Jean-Luc, Robin, Stéphanie
Published in European journal of medical genetics (01.10.2022)
Published in European journal of medical genetics (01.10.2022)
Get full text
Journal Article
Leukoencephalopathy due to variants in GFPT1- associated congenital myasthenic syndrome
Helman, Guy, Sharma, Suvasini, Crawford, Joanna, Patra, Bijoy, Jain, Puneet, Bent, Stephen J, Urtizberea, J Andoni, Saran, Ravindra K, Taft, Ryan J, van der Knaap, Marjo S, Simons, Cas
Published in Neurology (05.02.2019)
Published in Neurology (05.02.2019)
Get more information
Journal Article
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Sabbagh, Sandra, Mansour, Hicham, Chouery, Eliane, Hmaimess, Ghassan, Jabbour, Rosette, Mehawej, Cybel, Alame, Saada, Hani, Abeer, Hasbini, Dana, Ghanem, Ismat, Koussa, Salam, Al-Ali, Mahmoud Taleb, Obeid, Marc, Talea, Diana Bou, Lefranc, Gerard, Lévy, Nicolas, Leturcq, France, El Hayek, Stephany, Delague, Valérie, Urtizberea, J Andoni
Published in Journal of neuromuscular diseases (01.01.2022)
Published in Journal of neuromuscular diseases (01.01.2022)
Get more information
Journal Article
Dysferlinopathies
Urtizberea, J. Andoni, Bassez, Guillaume, Leturcq, France, Nguyen, Karine, Krahn, Martin, Levy, Nicolas
Published in Neurology India (01.07.2008)
Published in Neurology India (01.07.2008)
Get full text
Journal Article
When all roads lead to Africa
Urtizberea, J Andoni, Alrohaif, Hadil, Gouda, Sayed A, Bastaki, Laila
Published in M.S. Médecine sciences (01.11.2019)
Published in M.S. Médecine sciences (01.11.2019)
Get full text
Journal Article
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
Cerino, Mathieu, González-Hormazábal, Patricio, Abaji, Mario, Courrier, Sebastien, Puppo, Francesca, Mathieu, Yves, Trangulao, Alejandra, Earle, Nicholas, Castiglioni, Claudia, Díaz, Jorge, Campero, Mario, Hughes, Ricardo, Vargas, Carmen, Cortés, Rocío, Kleinsteuber, Karin, Acosta, Ignacio, Urtizberea, J. Andoni, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Jara, Lilian, Caviedes, Pablo, Gorokhova, Svetlana, Bevilacqua, Jorge A.
Published in Genes (16.06.2022)
Published in Genes (16.06.2022)
Get full text
Journal Article