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by de Vette, Ivar and Lombardo, Angelo and Berkhout, Ben and Vervoordeldonk, Margriet and Dekkers, Johanna F and Kruisselbrink, Evelien and Vonk, Annelotte M and de Jonge, Hugo R and de Winter, Karin M and de Groot, – and Janssens, Hettie M and Bronsveld, Inez and Nieuwenhuis, Edward E.S and Houwen, Roderick H.J and Vleggaar, Frank P and Escher, Hankje C and Clevers, Hans and van der Ent, Cornelis K and Buckland, Karen and Rivat, Christine and Himoudi, Nourredine and Gilmour, Kimberly and Booth, Claire and Cornetta, Kenneth and Kohn, Don B and Carbonaro, Denise and Paruzynski, Anna and Schmidt, Manfred and Thrasher, Adrian J and Schaffer, David and Hwang, Tae-Ho and Zinn, E and Khaychuk, V and Sarkar, D and Carvalho, L and Pacouret, S and Morris, H and Plovie, E and van Gent, Michiel and Gram, Anna and Boer, Ingrid and Horst, Danielle and Zaldumbide, Arnaud and Hoeben, Rob and Wiertz, Emmanuel and Maring, J and Smits, AM and Ouyang, Hong and Lin, Ying and Wang, Yujuan and Cai, Humim and Li, Gen and Patel, Sherrina and Zhu, Jie and Lin, Danni and Wen, Cindy and Zhu, Jin and Tsaalbi-Shtylik, Anastasia and Martín-Pardillos, Ana and Ferras, Cristina and Verspuy, Johan and Speksnijder, Ewoud and Jansen, Jacob and Peng, Kah Whye and Federspiel, Mark and Naik, Shruthi and Ruiz, Autumn and Lacy, Martha and Dispenzieri, Angela and O'Donovan, Liz and Arzumanov, Andrey A and Rahim, A.A and Burke, D.G and Buckley, S.M and Cullen, E and Mukherji, S and Mills, K and Sirka, E and Herbert, B and Karlsson, S and Hughes, D.A and Mehta, A.B and Howe, S.J and Heales, S and Cooper, J.D and Cheng, S.H and van Til, Niek P and Liang, Q and Stok, M and Wagemaker, G and Reiss, Ulrike M and Tuddenham, Edward G.D and Nienhuis, Arthur W and Davidoff, Andrew M and Meneghini, V and Lattanzi, A and Tiradani, L and Bravo, G and Morena, F and Martino, S and ...
Human Gene Therapy, ISSN 1043-0342, 11/2014, Volume 25, Issue 11, pp. A1 - A121
Journal Article
Molecular Therapy, ISSN 1525-0016, 04/2017, Volume 25, Issue 4, pp. 839 - 854
X-linked myotubular myopathy (XLMTM) results from gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to... 
myotubularin | centronuclear | neuromuscular | myotubular | myopathy | muscle | gene therapy | adeno-associated virus | canine | pediatric | NONHUMAN-PRIMATES | EFFICIENT TRANSDUCTION | MUSCLE PATHOLOGY | MEDICINE, RESEARCH & EXPERIMENTAL | CANINE MODEL | ADENOASSOCIATED VIRUS | MUSCULAR-DYSTROPHY | SKELETAL-MUSCLE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HEMOPHILIA-B | AAV | GENETICS & HEREDITY | RECEPTOR FOOTPRINT | Dependovirus - genetics | Gait | Genetic Vectors - administration & dosage | Genetic Vectors - adverse effects | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Recovery of Function | Tissue Distribution | Immunity, Humoral | Myopathies, Structural, Congenital - therapy | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Muscle Strength | Disease Models, Animal | Reflex | Gene Expression | Transgenes - genetics | Kaplan-Meier Estimate | Muscle, Skeletal - ultrastructure | Treatment Outcome | Dependovirus - classification | Disease Progression | Genetic Vectors - genetics | Animals | Biopsy | Muscle, Skeletal - physiopathology | Dogs | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - mortality | Muscle, Skeletal - pathology | Respiratory Function Tests | Genetic Vectors - pharmacokinetics | Transgenes - immunology | Immunity, Cellular | Genetic Therapy - adverse effects | Genetic Therapy - methods | Animal models | Respiratory function | MTM1 gene | Animal euthanasia | Immune response | Disease | Clinical trials | Grants | Males | Desmin | Muscular dystrophy | Pathology | Genotype & phenotype | Musculoskeletal system | Walking | Ostomy | Life span | Trends | Mutation | Gene therapy | Age | Myopathy | Life Sciences | Original
Journal Article
Muscle & Nerve, ISSN 0148-639X, 11/2017, Volume 56, Issue 5, pp. 943 - 953
Journal Article
Cell Calcium, ISSN 0143-4160, 06/2019, Volume 80, p. 91
Skeletal muscle deficiency in the 3-phosphoinositide (PtdInsP) phosphatase myotubularin (MTM1) causes myotubular myopathy which is associated with severe... 
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 04/2018, Volume 77, Issue 4, pp. 282 - 295
Abstract X-linked myotubular myopathy (XLMTM) is a severe congenital disorder in male infants that leads to generalized skeletal muscle weakness and is... 
AAV vector | MTMR1 | MTMR2 | Myotubular myopathy | Mouse model | MTM1 | Myotubularin | MOUSE SKELETAL-MUSCLE | PROLONGS SURVIVAL | MARIE-TOOTH-DISEASE | CA2+ RELEASE | MUSCULAR-DYSTROPHY | PATHOLOGY | NEUROSCIENCES | MDX MICE | CLINICAL NEUROLOGY | GENE | LIPID PHOSPHATASE | CENTRONUCLEAR MYOPATHIES | PHOSPHATIDYLINOSITOL 3-PHOSPHATASES | Musculoskeletal system | Rodents | Original
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2016, Volume 113, Issue 50, p. 14432
  Mutations in the gene encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric disease of skeletal muscle named... 
Musculoskeletal system | Calcium | Rodents | Mutation | Kinases
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2016, Volume 113, Issue 50, pp. 14432 - 14437
Journal Article
Cell Calcium, ISSN 0143-4160, 06/2019, Volume 80, pp. 91 - 100
Skeletal muscle deficiency in the 3-phosphoinositide (PtdIns ) phosphatase myotubularin (MTM1) causes myotubular myopathy which is associated with severe... 
Myotubular myopathy | Sarcoplasmic reticulum Ca2+ release | Skeletal muscle | Ryanodine receptor | Life Sciences
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2016, Volume 24, pp. S129 - S130
Journal Article
by Schmidt, Manfred and Verhoeyen, Els and Gobbo, Emilie and Divers, Dominique and Oudrhiri, Noufissa and Griscelli, Frank and Bennaceur-Griscelli, Annelise and Klatzmann, David and Anguela, Xavier M and Sharma, Rajiv and Sharma, Rajiv and Li, Hojun and Li, Hojun and Haurigot, Virginia and Haurigot, Virginia and Haurigot, Virginia and Bhagwat, Anand and Bhagwat, Anand and Davidson, Robert and Davidson, Robert and Zhou, Shangzhen and Zhou, Shangzhen and Zhou, Shangzhen and Doyon, Yannick and Gregory, Philip D and Gregory, Philip D and Gregory, Philip D and Holmes, Michael C and Holmes, Michael C and Holmes, Michael C and High, Katherine A and Carbonaro, Denise and Shaw, Kit and Jin, Xiangyang and Geiger, Sabine and Mishra, Suparna and Cooper, Aaron and DeOliveira, Satiro and Sokolic, Rob and Candotti, Fabio and Carmo, Marlene and Arumugam, Paritha and Alonso-Ferrero, Maria and Schambach, Axel and Schambach, Axel and Baum, Christopher and Baum, Christopher and Baum, Christopher and Risma, Kimberly and Malik, Punam and Jordan, Michael and Rivat, Christine and Booth, Claire and Thrasher, Adrian and Whilding, Lynsey and Archibald, Kyra and Oberg, Daniel and Golan, Talia and Hubert, Ayala and Shemi, Amotz and Khvalevsky, Elina Zorde and Gabai-Malka, Racheli and Focht, Gili and Brunschwig, Zivia and Raskin, Stephen and Goldberg, Nahum and Ben-David, Eli and Peretz, Tamar and Eliakim, Rami and Dankur, Alan and Galun and Rachmur, Itzik and Domb, Avi and Kopelman, Yael and Hantz, Yael and Lahav, Mor and Arbel-Alon, Sagit and Dickson, George and Barkats, Martine and Daboussi, Fayza and Silva, Georges and Cedrone, Frederic and Epinat, Jean Charles and Juillerat, Alexandre and Valton, Julien and Montini, Eugenio and Biffi, Alessandra and Biffi, Alessandra and Calabria, Andrea and Calabria, Andrea and Biasco, Luca and Biasco, Luca and Cesani, Martina and Cesani, Martina and Benedicenti, Fabrizio and Benedicenti, Fabrizio and Plati, Tiziana and Leo, Simone and Zanetti, Gianluigi and Aiuti, Alessandro and ...
Human Gene Therapy, ISSN 1043-0342, 10/2012, Volume 23, Issue 10, pp. A1 - A173
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2015, Volume 23, p. S229
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2015, Volume 23, pp. S53 - S53
Journal Article
Cell calcium, 04/2019, Volume 80, p. 91
Skeletal muscle deficiency in the 3-phosphoinositide (PtdInsP) phosphatase myotubularin (MTM1) causes myotubular myopathy which is associated with severe... 
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 02/2016, Volume 75, Issue 2, pp. 102 - 110
X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of... 
Myotubular | Centronuclear | Congenital | Hypotrophy | Sarcotubular | Myopathy | Myotubularin | RECEPTOR | AUTOPHAGY | PATHOLOGY | NEUROSCIENCES | PHOSPHOINOSITIDES | CARRIER | CLINICAL NEUROLOGY | FAMILY | INACTIVATION | FIBERS | INHIBITION | MUTATION | DISEASE | Animals | Muscle, Skeletal - pathology | Species Specificity | Humans | Myopathies, Structural, Congenital - pathology | Disease Models, Animal | Review
Journal Article