X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (15) 15
index medicus (15) 15
child (12) 12
male (12) 12
female (9) 9
adolescent (8) 8
child, preschool (7) 7
adult (6) 6
phenotype (6) 6
children (5) 5
genetic aspects (5) 5
infant (5) 5
mutation (5) 5
neurology (5) 5
neurosciences (5) 5
clinical neurology (4) 4
disease (4) 4
middle aged (4) 4
muscle, skeletal - pathology (4) 4
muscular dystrophy (4) 4
pediatrics (4) 4
young adult (4) 4
age (3) 3
age of onset (3) 3
care and treatment (3) 3
distal sma (3) 3
familial mediterranean fever (3) 3
genes (3) 3
genetic disorders (3) 3
genotype (3) 3
mutations (3) 3
research (3) 3
studies (3) 3
abnormal cortical development (2) 2
analysis (2) 2
antirheumatic agents - therapeutic use (2) 2
article (2) 2
biochemistry & molecular biology (2) 2
biomedicine (2) 2
biophysics (2) 2
cardiac & cardiovascular systems (2) 2
cardiomyopathy (2) 2
clinical-features (2) 2
cohort studies (2) 2
diagnosis (2) 2
dync1h1 (2) 2
gene (2) 2
genetics & heredity (2) 2
genotype & phenotype (2) 2
infant, newborn (2) 2
inflammation (2) 2
interleukin 1 receptor antagonist protein - therapeutic use (2) 2
magnetic resonance imaging (2) 2
medical genetics (2) 2
mevalonate kinase deficiency (2) 2
molecular sequence data (2) 2
muscle mri (2) 2
muscular atrophy, spinal - genetics (2) 2
muscular dystrophy, duchenne - physiopathology (2) 2
muscular dystrophy, facioscapulohumeral - genetics (2) 2
muscular dystrophy, facioscapulohumeral - physiopathology (2) 2
mutation, missense (2) 2
nervous system diseases (2) 2
onset (2) 2
patients (2) 2
pedigree (2) 2
pulmonary/respiratory (2) 2
respiratory system (2) 2
rheumatology (2) 2
severity of illness index (2) 2
sma-led (2) 2
spectrum (2) 2
spirometry (2) 2
1506 (1) 1
1710 (1) 1
1713 (1) 1
abridged index medicus (1) 1
acute cerebellar-ataxia (1) 1
adaptor proteins, signal transducing - genetics (1) 1
adipose triglyceride lipase (1) 1
adolescent; adult; age of onset; child; child, preschool; female; humans; infant; infant, newborn; italy; kaplan-meier estimate; male; middle aged; muscular dystrophy, facioscapulohumeral; nuclear proteins; registries; severity of illness index; young adult; alleles; genotype; phenotype; medicine (1) 1
aged (1) 1
airway management (1) 1
algorithm (1) 1
alleles (1) 1
amino acid sequence (1) 1
amyloidosis - etiology (1) 1
anticipation (1) 1
antirheumatic agents - pharmacology (1) 1
arthritis, juvenile - classification (1) 1
arthritis, juvenile - drug therapy (1) 1
arthritis, juvenile - immunology (1) 1
article subject (1) 1
asparagine (1) 1
ataxia (1) 1
atp (1) 1
atypical features (1) 1
autoimmune diseases - complications (1) 1
autoimmune diseases - diagnosis (1) 1
autoimmune diseases - drug therapy (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Respiratory Medicine, ISSN 0954-6111, 2017, Volume 126, pp. 132 - 132
[...]the reliability of mouthpiece spirometry has been assessed by repeating the test with an oro-nasal mask connected to the spirometer. [...]we believe that,... 
Pulmonary/Respiratory | RESPIRATORY SYSTEM | CARDIAC & CARDIOVASCULAR SYSTEMS | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Spirometry | Infant | Child | Humans | Pediatrics | Reliability analysis | Medical screening | Respiration | Respiratory system | Muscular dystrophy
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2018, Volume 89, Issue 1, pp. 72 - 77
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2015, Volume 262, Issue 7, pp. 1728 - 1740
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue S 01, pp. S1 - S12
Conference Proceeding
Journal of Clinical Immunology, ISSN 0271-9142, 5/2008, Volume 28, Issue S1, pp. 73 - 83
Autoinflammatory diseases are a group monogenic inflammatory conditions characterized by an early onset during childhood.Under the term “periodic fevers” are... 
tumor necrosis factor (TNF) receptor-associated syndrome | Medical Microbiology | Biomedicine | Immunology | Internal Medicine | Infectious Diseases | Familial Mediterranean fever | mevalonate kinase deficiency | cryopyrinopathies | Tumor necrosis factor (TNF) receptor-associated syndrome | Cryopyrinopathies | Mevalonate kinase deficiency | RECURRENT MULTIFOCAL OSTEOMYELITIS | TNF RECEPTOR | INTERLEUKIN-1 BLOCKADE | necrosis factor (TNF) receptor-associated syndrome | CLINICAL-FEATURES | IMMUNOLOGY | CONGENITAL DYSERYTHROPOIETIC ANEMIA | mevalonate kinase deficiency tumor | MEVALONATE KINASE | HYPERIMMUNOGLOBULINEMIA-D | PEDIATRIC GRANULOMATOUS ARTHRITIS | familial Mediterranean fever | PERIODIC FEVER | Autoimmune Diseases - physiopathology | Cytoskeletal Proteins - genetics | Mevalonate Kinase Deficiency - physiopathology | Humans | Child, Preschool | Infant | Mevalonate Kinase Deficiency - genetics | CARD Signaling Adaptor Proteins - genetics | Mevalonate Kinase Deficiency - therapy | Autoimmune Diseases - genetics | Adult | Amyloidosis - etiology | Steroids - therapeutic use | Child | CARD Signaling Adaptor Proteins - immunology | Autoimmune Diseases - complications | Familial Mediterranean Fever - genetics | Familial Mediterranean Fever - complications | Genotype | Familial Mediterranean Fever - therapy | Inflammation | Autoimmune Diseases - diagnosis | Mevalonate Kinase Deficiency - diagnosis | Pyrin | Familial Mediterranean Fever - physiopathology | Adaptor Proteins, Signal Transducing - genetics | Age of Onset | Mevalonate Kinase Deficiency - complications | Autoimmune Diseases - therapy | Familial Mediterranean Fever - diagnosis | Mutation | Care and treatment | Children | Diagnosis | Tumor necrosis factor | Diseases
Journal Article
BMJ Open, ISSN 2044-6055, 01/2016, Volume 6, Issue 1, p. e007798
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 03/2015, Volume 458, Issue 3, p. 601
Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system. 
Nervous system diseases | Genetic aspects | Mitochondrial DNA | Cardiomyopathy | Heart diseases | Genes | Transfer RNA
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 03/2015, Volume 458, Issue 3, pp. 601 - 604
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 01/2013, Volume 430, Issue 1, pp. 241 - 244
Journal Article
Research in Developmental Disabilities, ISSN 0891-4222, 11/2015, Volume 45-46, Issue Nov, pp. 168 - 177
Below-average reading performances have been reported in individuals with Duchenne muscular dystrophy (DMD), but literacy problems in these subjects have yet... 
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 19, Issue 5, pp. 533 - 536
Abstract Background Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal... 
Pediatrics | Neurology | Germline mosaicism | Collagen VI | UCMD | PEDIATRICS | MUTATIONS | CLINICAL NEUROLOGY | Collagen Type VI - genetics | Sclerosis - genetics | Exons | Pedigree | Humans | Heterozygote | Male | Mosaicism | Mutation, Missense | Muscular Dystrophies - genetics | Siblings | Genetic disorders | Collagen | Cells | Medical genetics
Journal Article
Journal of International Medical Research, ISSN 0300-0605, 3/2018, Volume 46, Issue 3, pp. 1153 - 1161
Journal Article