X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (72) 72
mtm1 (62) 62
myopathies, structural, congenital - genetics (54) 54
male (50) 50
index medicus (48) 48
clinical neurology (42) 42
centronuclear myopathy (41) 41
mtm1 gene (41) 41
neurosciences (41) 41
mutation (38) 38
myotubular myopathy (37) 37
female (36) 36
muscle, skeletal - pathology (34) 34
myotubularin (32) 32
protein tyrosine phosphatases, non-receptor - genetics (31) 31
x-linked myotubular myopathy (29) 29
family (28) 28
phenotype (28) 28
protein tyrosine phosphatases, non-receptor (25) 25
genetics & heredity (24) 24
mutations (24) 24
myopathy (23) 23
protein tyrosine phosphatases - genetics (23) 23
infant, newborn (22) 22
myopathies, structural, congenital - pathology (22) 22
infant (21) 21
linked myotubular myopathy (21) 21
adult (18) 18
congenital myopathy (18) 18
gene (18) 18
neurology (18) 18
child (17) 17
child, preschool (17) 17
mutation - genetics (17) 17
phosphatidylinositol 3-phosphate (17) 17
animals (16) 16
biopsy (16) 16
congenital myopathies (16) 16
genetic aspects (15) 15
adolescent (14) 14
xq28 (14) 14
dna mutational analysis (13) 13
genetic disorders (13) 13
genetics (13) 13
middle aged (13) 13
myopathies, structural, congenital - diagnosis (13) 13
pedigree (13) 13
skeletal-muscle (13) 13
diagnosis (12) 12
life sciences (12) 12
phosphatase (12) 12
centronuclear myopathies (11) 11
dna (11) 11
dynamin-2 (11) 11
gene expression (11) 11
mice (11) 11
molecular sequence data (11) 11
mtm1 mutations (11) 11
muscle, skeletal - metabolism (11) 11
proteins (11) 11
x chromosome (11) 11
biochemistry & molecular biology (10) 10
dnm2 (10) 10
exons (10) 10
heterozygote (10) 10
muscle (10) 10
myopathies, structural, congenital - physiopathology (10) 10
x chromosome - genetics (10) 10
dynamin ii - genetics (9) 9
genetic diseases, x-linked - genetics (9) 9
genetic linkage (9) 9
lipid phosphatase (9) 9
muscle, skeletal - ultrastructure (9) 9
muscles (9) 9
necklace fibers (9) 9
pathology (9) 9
pediatrics (9) 9
protein tyrosine phosphatases, non-receptor - metabolism (9) 9
xlmtm (9) 9
analysis (8) 8
base sequence (8) 8
chromosomes, human, x (8) 8
exons - genetics (8) 8
gene mutations (8) 8
genes (8) 8
muscular diseases - genetics (8) 8
nuclear proteins - genetics (8) 8
bin1 (7) 7
dynamin 2 (7) 7
genetic research (7) 7
genotype & phenotype (7) 7
inactivation (7) 7
linkage (7) 7
marie-tooth-disease (7) 7
muscle fibers, skeletal - pathology (7) 7
myopathies, structural, congenital - metabolism (7) 7
region (7) 7
research (7) 7
ryr1 (7) 7
ryr1 mutations (7) 7
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (104) 104
French (2) 2
Japanese (2) 2
Portuguese (2) 2
Chinese (1) 1
Czech (1) 1
Slovak (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Neuropediatrics, ISSN 0174-304X, 02/2019, Volume 50, Issue 1, pp. 061 - 063
Abstract X-linked myotubular myopathy (XLMTM) is a rare inherited neuromuscular disorder associated with mutations in the MTM1 gene on the Xq28 region. We... 
Short Communication | X-linked myotubular myopathy | MTM1 gene | Xq28 duplication | INACTIVATION | GENE | PEDIATRICS | DUPLICATION | SPECTRUM | MTM1 MUTATIONS | CARRIERS | GIRL | CLINICAL NEUROLOGY
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2009, Volume 117, Issue 3, pp. 283 - 291
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2007, Volume 17, Issue 4, pp. 338 - 345
Abstract Centronuclear myopathy is a genetically heterogeneous congenital myopathy. Whilst mutations in the myotubularin (MTM1) gene are implicated in the... 
Neurology | Centronuclear myopathy (CNM) | Skeletal muscle ryanodine receptor ( RYR1) gene | Dynamin 2 ( DNM2) gene | Muscle magnetic resonance imaging | Myotubular myopathy (MTM) | Calcium homeostasis | Myotubularin ( MTM1) gene | Myotubularin (MTM1) gene | Skeletal muscle ryanodine receptor (RYR1) gene | Dynamin 2 (DNM2) gene | X-INACTIVATION | MULTI-MINICORE DISEASE | myotubular myopathy (MTM) | MALIGNANT HYPERTHERMIA | calcium homeostasis | RODS | NEUROSCIENCES | muscle magnetic resonance imaging | CLINICAL NEUROLOGY | skeletal muscle ryanodine receptor (RYR1) gene | centronuclear myopathy (CNM) | MTM1 GENE | myotubularin (MTM1) gene | CONGENITAL MYOPATHY | AUTOSOMAL-DOMINANT | dynamin 2 (DNM2) gene | LINKED MYOTUBULAR MYOPATHY | CENTRAL CORE DISEASE | Myopathies, Structural, Congenital - physiopathology | Calcium - metabolism | Humans | Magnetic Resonance Imaging - methods | Serine - genetics | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Mutation, Missense | DNA Mutational Analysis - methods | Dose-Response Relationship, Drug | Ryanodine Receptor Calcium Release Channel - genetics | Muscle, Skeletal - drug effects | Muscle, Skeletal - physiopathology | Potassium Chloride - pharmacology | Adolescent | Myopathies, Structural, Congenital - pathology | Female | Muscle, Skeletal - pathology | Genes, Dominant - genetics | Leucine - genetics | Cresols - pharmacology | Gene mutations | Genetic research | Genetic aspects | Calcium | Ryanodine Receptor Calcium Release Channel | Serine | Biochemistry, Molecular Biology | Potassium Chloride | Leucine | Life Sciences | Magnetic Resonance Imaging | Myopathies, Structural, Congenital | Genes, Dominant | DNA Mutational Analysis | Cresols | Muscle, Skeletal | Molecular biology
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 11/2018, Volume 28, Issue 11, pp. 952 - 955
X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the gene. Female carriers are believed to be usually... 
Genetics | Neuromuscular | X-linked myotubular myopathy | Cardiomyopathy | MTM1 | LINKED MYOTUBULAR MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic aspects | Pulmonary function tests | Genetic disorders | Respiratory insufficiency | Heart diseases
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 339 - 345
We report the case of a 58-year-old woman with a progressive and seemingly sporadic myopathy who, later through whole exome sequencing, was diagnosed as a... 
Centronuclear myopathies | Manifesting female carriers | Congenital myopathies | Necklace fibers | MTM1 | Medical colleges | Gene mutations | Genes | Patient outcomes | Jewelry | Genetic aspects | Infants
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2013, Volume 21, Issue 5, pp. 540 - 549
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 3/2009, Volume 117, Issue 3, pp. 283 - 291
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular... 
Pathology | Neurosciences | MTM1 gene | Medicine & Public Health | MTM1 mutations | Congenital myopathy | Centronuclear myopathy
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
Neuromuscular Disorders, ISSN 0960-8966, 10/2018, Volume 28, Issue 10, pp. 846 - 856
Here, we describe a new variant of necklace fibres with specific myopathological features that have not been described thus far. They were observed in two... 
3D electron microscopy | Centronuclear myopathy | Necklace fibres | MTM1 | DNM2 | GENOTYPE-PHENOTYPE CORRELATION | DNM2 MUTATION | CONGENITAL MYOPATHIES | AUTOPHAGY | NEUROSCIENCES | CLINICAL NEUROLOGY | MUSCLE PSEUDOHYPERTROPHY | DOMINANT CENTRONUCLEAR MYOPATHY | NEUTROPENIA | DYNAMIN 2 | LINKED MYOTUBULAR MYOPATHY | ONSET | Jewelry | Glutamine
Journal Article