X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (48) 48
index medicus (44) 44
clinical neurology (29) 29
male (29) 29
neurosciences (27) 27
mutation (25) 25
female (19) 19
neurology (17) 17
adult (15) 15
adolescent (14) 14
child (13) 13
phenotype (13) 13
muscle, skeletal - pathology (12) 12
child, preschool (11) 11
genetics & heredity (11) 11
research (10) 10
exercise (9) 9
gene (9) 9
genetic aspects (9) 9
infant (9) 9
neuromuscular diseases (9) 9
middle aged (8) 8
muscular dystrophies - genetics (8) 8
analysis (7) 7
article (7) 7
medical research (7) 7
muscular dystrophy (7) 7
young adult (7) 7
care and treatment (6) 6
diagnosis (6) 6
disease (6) 6
genetic disorders (6) 6
glycosylation (6) 6
mutations (6) 6
psychiatry (6) 6
rhabdomyolysis (6) 6
skeletal-muscle (6) 6
abridged index medicus (5) 5
biopsy (5) 5
diagnosis, differential (5) 5
dystroglycans - metabolism (5) 5
exercise test (5) 5
genetics (5) 5
glycogen storage disease type v - genetics (5) 5
glycogen storage disease type v - physiopathology (5) 5
mcardle disease (5) 5
muscle, skeletal - metabolism (5) 5
musculoskeletal system (5) 5
myoglobinuria (5) 5
patients (5) 5
pediatrics (5) 5
surgery (5) 5
abnormal glycosylation (4) 4
adrenal cortex hormones - therapeutic use (4) 4
diagnostic errors (4) 4
duchenne muscular dystrophy (4) 4
expression (4) 4
genes (4) 4
genetic research (4) 4
glycogen storage disease type v (4) 4
heart rate (4) 4
infant, newborn (4) 4
muscle (4) 4
muscles (4) 4
muscular diseases - genetics (4) 4
muscular dystrophy, duchenne - drug therapy (4) 4
mutation - genetics (4) 4
mutation, missense (4) 4
myophosphorylase deficiency (4) 4
nonsense mutation (4) 4
outcomes (4) 4
pedigree (4) 4
rhabdomyolysis - genetics (4) 4
ryanodine receptor calcium release channel - genetics (4) 4
synthesis (4) 4
usage (4) 4
walker-warburg-syndrome (4) 4
walking (4) 4
activation (3) 3
alpha-dystroglycan (3) 3
biochemistry & molecular biology (3) 3
cells, cultured (3) 3
central core disease (3) 3
children (3) 3
cohort studies (3) 3
common-cause (3) 3
congenital muscular dystrophy (3) 3
congenital myopathy (3) 3
corticosteroids (3) 3
creatine kinase - blood (3) 3
duchenne muscular-dystrophy (3) 3
exercise therapy (3) 3
gene mutations (3) 3
genetic testing (3) 3
glycogen (3) 3
glycogen phosphorylase, muscle form - genetics (3) 3
glycogenosis (3) 3
homozygote (3) 3
management (3) 3
medical colleges (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2016, Volume 87, Issue 12, pp. e1 - e1
Advances in medical management, in particular the introduction of home ventilation in the 1990 s, has resulted in prolonged survival beyond early adulthood for... 
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 7, pp. 702 - 703
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 10/2012, Volume 54, Issue 10, pp. 886 - 891
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2010, Volume 20, Issue 3, pp. 217 - 217
Journal Article
Journal Article
Muscle & Nerve, ISSN 0148-639X, 10/2014, Volume 50, Issue 4, pp. 477 - 487
Journal Article
Brain, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Journal Article
Physical Therapy, ISSN 0031-9023, 2016, Volume 96, Issue 10, pp. 1514 - 1524
BACKGROUND: Exercise interventions are often incompletely described in reports of clinical trials, hampering evaluation of results and replication and... 
STATEMENT | REHABILITATION | MANAGEMENT | THERAPY | UPDATED GUIDELINES | ORTHOPEDICS | Delphi Technique | Humans | Checklist | Surveys and Questionnaires | Clinical Trials as Topic | Research Design | Consensus | Exercise Therapy | Clinical trials | Usage | Analysis | Exercise therapy | Studies | Researchers | Experts | Quality | Questionnaires | Research | Epidemiology | Chronic illnesses
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 12/2014, Volume 99, Issue 12, pp. 1061 - 1061
  [...]the long term side effects associated with daily corticosteroid treatment were greater than intermittent steroids. 4 Furthermore, data from this audit... 
PEDIATRICS | Male | Humans | Muscular Dystrophy, Duchenne - diagnosis | Life expectancy | Scoliosis | Long term | Age | Muscular dystrophy
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2015, Volume 25, pp. S146 - S148
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2019, Volume 90, Issue 7, pp. 838 - 838
The remaining patients underwent neuro-otological investigations and a vestibular abnormality was detected in 91% (30/33), of which 77% (23/30) had peripheral... 
neurootology | vertigo | rehabilitation | SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | Medical research | Neuromuscular diseases | Biomedical research | Funding | Migraine | Mitochondrial DNA | Hearing impairment | Patients | Vertigo | Neurology | Ataxia | Mutation | University colleges | Transfer RNA | 1506 | PostScript
Journal Article
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 981 - 988
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 9, pp. 852 - 855
Highlights • Correct diagnosis is rarely identified before adulthood in McArdle Disease • A high frequency of misdiagnosis was seen in McArdle Disease •... 
Neurology | McArdle disease | Glycogen storage disease type V | Growing pains | Rhabdomyolysis | Exercise intolerance | Myoglobinuria | NEUROSCIENCES | EXERCISE | CLINICAL NEUROLOGY | Young Adult | Diagnostic Errors | Humans | Middle Aged | Adolescent | Adult | Female | Male | Aged | Delayed Diagnosis | Glycogen Storage Disease Type V - diagnosis | Diagnostic errors | Medicine, Experimental | Medical research
Journal Article