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BMJ Open, ISSN 2044-6055, 01/2016, Volume 6, Issue 1, pp. e007798 - e007798
Journal Article
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 | Pediatrics | Reliability analysis | Medical screening | Respiration | Respiratory system | Muscular dystrophy | Index Medicus
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 06/2018, Volume 63, Issue 6, pp. 761 - 764
We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked... 
Journal Article
The American Journal of Pathology, ISSN 0002-9440, 02/2019, Volume 189, Issue 2, pp. 354 - 369
In muscular dystrophies, muscle membrane fragility results in a tissue-specific increase of danger-associated molecular pattern molecules (DAMPs) and... 
OXIDIZED ATP | RHEUMATOID-ARTHRITIS | ACTIVATION | ANTAGONIST | P2X7 | P2X RECEPTOR | REGULATORY T-CELLS | MICE | GENE-TRANSFER | DUCHENNE | PATHOLOGY
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 03/2019, Volume 398, pp. 75 - 78
Variants in Filamin C (FLNC) gene may cause either cardiomyopathies or different myopathies. We describe a family affected by a distal myopathy with autosomal... 
Distal myopathy | Myofibrillar myopathy | NGS | FLNC | Filamin C | Hereditary myopathy | NEUROSCIENCES | CLINICAL NEUROLOGY | Neurosciences | Anopheles | Actin | Creatine kinase | Genetic aspects | Muscle proteins | Creatine | Protein binding
Journal Article
American Journal of Pathology, The, ISSN 0002-9440, 2015, Volume 185, Issue 12, pp. 3349 - 3360
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 753 - 761
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital... 
BUTYRYLCHOLINESTERASE | RESPIRATORY RHYTHM | NEUROTRANSMISSION | GENETICS & HEREDITY | MUTATIONS | NEUROMUSCULAR-JUNCTION | RECEPTORS | EXPRESSION | KNOCKOUT MOUSE | ACETYLTRANSFERASE | DEFICIENCY | Myasthenia Gravis - complications | Presynaptic Terminals - pathology | Genes, Recessive - genetics | Neuromuscular Junction - metabolism | Apnea - metabolism | Humans | Muscle Weakness - complications | Child, Preschool | Infant | Male | Muscle Weakness - genetics | Mutation, Missense - genetics | Synaptic Transmission | Myasthenia Gravis - metabolism | Butyrylcholinesterase - metabolism | DNA Mutational Analysis | HEK293 Cells | Muscle Weakness - pathology | Female | Neuromuscular Junction - enzymology | Child | Infant, Newborn | Neuromuscular Junction - pathology | Myasthenia Gravis - pathology | Apnea - complications | Muscle Hypotonia - genetics | Cholinergic Neurons - metabolism | Arthrogryposis - complications | Symporters - deficiency | Arthrogryposis - genetics | Mutation - genetics | Symporters - metabolism | Homozygote | Exome - genetics | Apnea - pathology | Symporters - genetics | Adolescent | Presynaptic Terminals - metabolism | Apnea - genetics | Heterozygote | Myasthenia Gravis - genetics | Cholinergic Neurons - pathology | Neurotransmitters | Mutation | Cognition & reasoning | Metabolism | Cells | Index Medicus | Life Sciences | Human health and pathology | Report
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 317 - 321
Kyphoscoliotic Ehlers‐Danlos syndrome associated with FKBP14 ( FKBP14 ‐kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals... 
Ehlers‐Danlos syndrome | muscle dystrophy | musculocontractural | FKBP14 | kyphoscoliotic | Ehlers-Danlos syndrome | EXPANSION | GENETICS & HEREDITY | MUTATIONS | KYPHOSCOLIOSIS | EHLERS-DANLOS-SYNDROME | Bones | Density | Teenage girls | Walking | Bone mass | Magnetic resonance imaging | Muscles | Bone dysplasia | Bone density | Hip | Hereditary diseases
Journal Article
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, ISSN 0091-6749, 06/2018, Volume 141, Issue 6, pp. 2220 - 2220
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
Journal Article