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Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 2014, Volume 72, Issue 1, pp. 1 - 2
Journal Article
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 06/2018, Volume 6, Issue 6, pp. 375 - 384
Introduction: Centronuclear myopathy (CNM) is a rare congenital muscle disease in which the most important skeletal muscle histological characteristic is the... 
RYR1 | centronuclear myopathy | dynamin-2 | myotubularin | myotubular myopathy | BIN1 | gene therapy | congenital myopathy | PROLONGS SURVIVAL | MARIE-TOOTH-DISEASE | GENOTYPE-PHENOTYPE CORRELATIONS | NECKLACE FIBERS | CONGENITAL MYOPATHIES | PHOSPHATIDYLINOSITOL 5-PHOSPHATE | SKELETAL-MUSCLE | RYR1 MUTATIONS | PHARMACOLOGY & PHARMACY | DYNAMIN 2 | LINKED MYOTUBULAR MYOPATHY
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 04/2018, Volume 76, Issue 4, p. 265
Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene.... 
Phenotypes | Intravenous administration | Transcription | Motor neuron diseases | Copy number | SMN protein | Insertion | Antisense oligonucleotides | Spinal muscular atrophy
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 04/2018, Volume 76, Issue 4, pp. 265 - 272
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 01/2014, Volume 72, Issue 1, pp. 1 - 2
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2009, Volume 17, Issue 6, pp. 703 - 710
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 04/2018, Volume 76, Issue 4, pp. 265 - 272
ABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the... 
PSYCHIATRY | NEUROSCIENCES
Journal Article
Annals of Neurology, ISSN 0364-5134, 09/2019, Volume 86, Issue 3, pp. 458 - 462
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first... 
Neuroimaging | Atrophy | Brain | Phenotypes | Magnetic resonance imaging | Abnormalities | SMN protein | Spinal muscular atrophy
Journal Article
Journal Article
International Urogynecology Journal, ISSN 0937-3462, 03/2018, Volume 30, Issue 3, pp. 1 - 12
Introduction and hypothesisAn animal model of vaginal distention (VD) was developed to reproduce the acute urethral injury and deficiency underlying stress... 
Urinary incontinence | Muscle | Urethra | Trauma | Collagen | IMPACT | INJURIES | CHILDBIRTH | UROLOGY & NEPHROLOGY | EXPRESSION | OBSTETRICS & GYNECOLOGY | Endothelial growth factors | RNA | Myosin | Muscles | Muscle proteins
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1980 - 1994
Journal Article
by Böhm, Johann and Biancalana, Valérie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz‐Laguna, Andoni and Wallgren‐Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Bomme Ousager, Lilian and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S. B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Poza Aldea, Juan José and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin‐Garraud, Valérie and Béroud, Christophe and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A. H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Brennan Spitale, Allison and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean‐Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Journal Article