X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1145) 1145
Book Review (321) 321
Publication (119) 119
Book Chapter (42) 42
Book / eBook (16) 16
Conference Proceeding (5) 5
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (999) 999
humans (945) 945
male (520) 520
female (452) 452
clinical neurology (433) 433
neurosciences (371) 371
mutation (363) 363
myopathy (357) 357
adult (285) 285
muscle, skeletal - pathology (269) 269
myopathies, structural, congenital - genetics (240) 240
child (228) 228
neurology (207) 207
phenotype (204) 204
genetic aspects (200) 200
genetics & heredity (199) 199
adolescent (186) 186
animals (182) 182
skeletal-muscle (170) 170
child, preschool (167) 167
middle aged (165) 165
biopsy (164) 164
mutations (161) 161
congenital myopathy (160) 160
genetic disorders (157) 157
infant (157) 157
myopathies, structural, congenital - pathology (152) 152
diagnosis (147) 147
disease (143) 143
pedigree (141) 141
muscular dystrophy (136) 136
gene (134) 134
myopathies, structural, congenital - diagnosis (128) 128
nemaline myopathy (128) 128
muscles (124) 124
pediatrics (122) 122
genetics (118) 118
infant, newborn (118) 118
muscle, skeletal - metabolism (118) 118
proteins (118) 118
muscular diseases - genetics (112) 112
research (110) 110
genes (109) 109
muscle (109) 109
pathology (109) 109
mutation - genetics (106) 106
analysis (103) 103
dna mutational analysis (103) 103
centronuclear myopathy (101) 101
muscle proteins - genetics (97) 97
cardiomyopathy (96) 96
aged (87) 87
central core disease (86) 86
article (84) 84
diagnosis, differential (84) 84
musculoskeletal system (84) 84
magnetic resonance imaging (82) 82
muscular diseases - pathology (82) 82
young adult (82) 82
congenital myopathies (77) 77
medicine & public health (74) 74
children (72) 72
mice (72) 72
gene mutations (69) 69
biochemistry & molecular biology (68) 68
medicine (67) 67
muscle, skeletal - physiopathology (67) 67
immunohistochemistry (65) 65
ryanodine receptor calcium release channel - genetics (65) 65
skeletal muscle (65) 65
muscular diseases - diagnosis (63) 63
muscular dystrophies - genetics (63) 63
physiological aspects (63) 63
myotubular myopathy (62) 62
family (61) 61
muscle fibers, skeletal - pathology (61) 61
patients (60) 60
abridged index medicus (59) 59
life sciences (58) 58
muscle diseases (57) 57
myopathies, nemaline - genetics (57) 57
health aspects (56) 56
cell biology (55) 55
congenital diseases (55) 55
muscle, skeletal - ultrastructure (55) 55
muscular-dystrophy (55) 55
genotype (53) 53
myofibrillar myopathy (53) 53
risk factors (53) 53
linked myotubular myopathy (52) 52
molecular sequence data (52) 52
myopathies (52) 52
myopathies, structural, congenital - complications (52) 52
myopathies, structural, congenital - physiopathology (52) 52
genetic research (51) 51
malignant hyperthermia (51) 51
myopathies, nemaline - pathology (50) 50
microscopy, electron (49) 49
deficiency (48) 48
expression (48) 48
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1156) 1156
French (12) 12
Japanese (11) 11
German (5) 5
Chinese (4) 4
Norwegian (2) 2
Czech (1) 1
Danish (1) 1
Hungarian (1) 1
Spanish (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Brain, ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
Journal Article
Circulation, ISSN 0009-7322, 08/2017, Volume 136, Issue 13, pp. e200 - e231
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made... 
Neuromuscular disease | Pediatrics | Cardiomyopathy | Muscular dystrophy | AHA Scientific Statements | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIOVASCULAR MAGNETIC-RESONANCE | MECHANICAL CIRCULATORY SUPPORT | neuromuscular disease | CONVERTING ENZYME-INHIBITORS | LUNG TRANSPLANTATION GUIDELINES | LEFT-VENTRICULAR NONCOMPACTION | muscular dystrophy | pediatrics | CHEYNE-STOKES RESPIRATION | LAMIN A/C GENE | PERIPHERAL VASCULAR DISEASE | DUCHENNE MUSCULAR-DYSTROPHY | MYOCARDIAL DELAYED ENHANCEMENT | cardiomyopathy | CARDIOSELECTIVE BETA-BLOCKERS | Myotonic Dystrophy - metabolism | Barth Syndrome - metabolism | Friedreich Ataxia - pathology | Myotonic Dystrophy - diagnosis | United States | Humans | Myopathies, Structural, Congenital - genetics | Neuromuscular Diseases - pathology | Barth Syndrome - pathology | Myotonic Dystrophy - pathology | Muscular Dystrophy, Emery-Dreifuss - diagnosis | Cardiomyopathies - diagnosis | Neuromuscular Diseases - diagnosis | Muscular Dystrophies, Limb-Girdle - pathology | Friedreich Ataxia - metabolism | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Diseases - metabolism | Risk Factors | Friedreich Ataxia - diagnosis | Muscular Dystrophy, Emery-Dreifuss - pathology | Cardiomyopathies - pathology | Muscular Dystrophy, Duchenne - pathology | Muscular Diseases - pathology | Barth Syndrome - diagnosis | American Heart Association | Muscular Diseases - diagnosis | Muscular Dystrophy, Emery-Dreifuss - metabolism | Muscular Dystrophies, Limb-Girdle - metabolism | Barth Syndrome - genetics | Neuromuscular Diseases - complications | Myopathies, Structural, Congenital - pathology | Cardiomyopathies - complications | Myopathies, Structural, Congenital - diagnosis | Muscular Dystrophy, Duchenne - metabolism | Myopathies, Structural, Congenital - metabolism | Muscular Dystrophy, Duchenne - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
by Brownstein, Catherine A and Beggs, Alan H and Homer, Nils and Merriman, Barry and Yu, Timothy W and Flannery, Katherine C and DeChene, Elizabeth T and Towne, Meghan C and Savage, Sarah K and Price, Emily N and Holm, Ingrid A and Luquette, Lovelace J and Lyon, Elaine and Majzoub, Joseph and Neupert, Peter and McCallie, David and Szolovits, Peter and Willard, Huntington F and Mendelsohn, Nancy J and Temme, Renee and Finkel, Richard S and Yum, Sabrina W and Medne, Livija and Sunyaev, Shamil R and Adzhubey, Ivan and Cassa, Christopher A and De Bakker, Paul I.W and Duzkale, Hatice and Dworzyński, Piotr and Fairbrother, William and Francioli, Laurent and Funke, Birgit H and Giovanni, Monica A and Handsaker, Robert E and Lage, Kasper and Lebo, Matthew S and Lek, Monkol and Leshchiner, Ignaty and MacArthur, Daniel G and McLaughlin, Heather M and Murray, Michael F and Pers, Tune H and Polak, Paz P and Raychaudhuri, Soumya and Rehm, Heidi L and Soemedi, Rachel and Stitziel, Nathan O and Vestecka, Sara and Supper, Jochen and Gugenmus, Claudia and Klocke, Bernward and Hahn, Alexander and Schubach, Max and Menzel, Mortiz and Biskup, Saskia and Freisinger, Peter and Deng, Mario and Braun, Martin and Perner, Sven and Smith, Richard J.H and Andorf, Janeen L and Huang, Jian and Ryckman, Kelli and Sheffield, Val C and Stone, Edwin M and Bair, Thomas and Ann Black-Ziegelbein, E and Braun, Terry A and Darbro, Benjamin and DeLuca, Adam P and Kolbe, Diana L and Scheetz, Todd E and Shearer, Aiden E and Sompallae, Rama and Wang, Kai and Bassuk, Alexander G and Edens, Erik and Mathews, Katherine and Moore, Steven A and Shchelochkov, Oleg A and Trapane, Pamela and Bossler, Aaron and Campbell, Colleen A and Heusel, Jonathan W and Kwitek, Anne and Maga, Tara and Panzer, Karin and Wassink, Thomas and Van Daele, Douglas and Azaiez, Hela and Booth, Kevin and Meyer, Nic and Segal, Michael M and Williams, Marc S and Tromp, Gerard and White, Peter and Corsmeier, Donald and Fitzgerald-Butt, Sara and Herman, Gail and Lamb-Thrush, Devon and ... and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
Genome Biology, ISSN 1474-7596, 2014, Volume 15, Issue 3, pp. R53 - R53
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
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 | Index Medicus | Life Sciences | Original
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2017, Volume 92, Issue 6, pp. 616 - 623
Journal Article
by Böhm, Johann and Biancalana, Valerie 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 Ousager, Lilian Bomme 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 Aldea, Juan José Poza 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 roud, Christophe Bé 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 Spitale, Allison Brennan 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