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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A64 - A64
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Frontiers in molecular neuroscience, ISSN 1662-5099, 09/2020, Volume 13, pp. 159 - 159
myasthenia gravis | acetylcholine receptor | MuSK | neuromuscular junction | autoantibodies | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Viral antibodies | Antibodies | Myasthenia gravis | Immunosuppressive agents | Phosphorylation | Autoantibodies | Disease | Pathophysiology | Immunoglobulin G | Muscles | Kinases | Epidemiology | Recruitment | Disease transmission | Agrin | Dispersal | MUSK protein | Acetylcholine receptors | Low density lipoprotein receptors | Neuromuscular junctions | Receptor density | Myasthenia | Autoimmune diseases | Synaptic cleft | Steroid hormones
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Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue 12
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Annals of internal medicine, 01/2021
Journal Article
Journal of vascular surgery, ISSN 0741-5214, 2019, Volume 70, Issue 3, pp. 672 - 682.e1
Surgery | Endovascular aortic arch repair | Thoracic endovascular aortic repair | Inner branch stent graft | Thoracic stent graft | Aortic arch | Peripheral Vascular Disease | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Aortic Diseases - diagnostic imaging | Humans | Middle Aged | Aortic Diseases - mortality | Male | Blood Vessel Prosthesis | Postoperative Complications - mortality | Prosthesis Design | Endovascular Procedures - instrumentation | Blood Vessel Prosthesis Implantation - adverse effects | Time Factors | Aged, 80 and over | Female | Registries | Retrospective Studies | Learning Curve | Stents | Clinical Competence | Hospital Mortality | Blood Vessel Prosthesis Implantation - instrumentation | Endovascular Procedures - adverse effects | Risk Factors | Postoperative Complications - therapy | Treatment Outcome | Endovascular Procedures - mortality | Blood Vessel Prosthesis Implantation - mortality | Aortic Diseases - surgery | Aorta, Thoracic - surgery | Italy | Aged | Aneurysms | Health aspects | Analysis | Mortality | Stent (Surgery) | Index Medicus
Journal Article
Clinical neurology and neurosurgery, ISSN 0303-8467, 2011, Volume 114, Issue 3, pp. 230 - 234
Neurology | Neurosurgery | Calpain | Atypical onset | FacioScapuloHumeral Muscular Dystrophy | Epilepsy | Myoglobinuria | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Surgery | Science & Technology | Biological and medical sciences | Medical sciences | Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases | Muscle Weakness - etiology | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Humans | Middle Aged | Child, Preschool | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Muscular Dystrophy, Facioscapulohumeral - epidemiology | Ophthalmoplegia - etiology | Epilepsy - complications | DNA - genetics | Young Adult | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Lower Extremity - physiopathology | Surveys and Questionnaires | Functional Laterality - physiology | Myoglobinuria - etiology | Child | Facial Paralysis - etiology | Electrocardiography, Ambulatory | Muscular dystrophy | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 628 - 635
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Genetic Testing | Muscular Dystrophy, Facioscapulohumeral - diagnosis | Humans | Middle Aged | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Chromosomes, Human, Pair 4 - genetics | Polymorphism, Genetic | Haplotypes - genetics | Adult | Female | Italy - epidemiology | Aged | Tandem Repeat Sequences - genetics | Brazil - epidemiology | Facioscapulohumeral muscular dystrophy | Molecular genetics | Genetic variation | Research | Nucleotide sequencing | Diagnosis | Risk factors | DNA sequencing | Evolutionary biology | Analysis | Muscular dystrophy | Haplotypes | Biomarkers | Genetics | Gene expression | Polymorphism | chromosome 4 | Prenatal diagnosis | DNA | Gene polymorphism | Myopathy | Index Medicus
Journal Article
Neurology : neuroimmunology & neuroinflammation, ISSN 2332-7812, 01/2020, Volume 7, Issue 1, pp. e645 - e645
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscle Fibers, Skeletal | Receptors, Cholinergic - metabolism | Humans | Receptors, Cholinergic - drug effects | Enzyme Inhibitors - pharmacology | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - antagonists & inhibitors | Phosphorylation - drug effects | In Vitro Techniques | Myasthenia Gravis - immunology | Receptor Protein-Tyrosine Kinases - metabolism | Quinolines - pharmacology | Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 171 - 178
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Haplotypes | Sequence Deletion | Genetic Association Studies | Gene Frequency | Humans | Middle Aged | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Tandem Repeat Sequences | Genetic Counseling | Chromosomes, Human, Pair 4 | Young Adult | DNA Mutational Analysis | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Heterozygote | Aged | Child | Index Medicus
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Journal of neurology, ISSN 0340-5354, 6/2016, Volume 263, Issue 6, pp. 1204 - 1214
Neurology | Disease registry | Neurosciences | Medicine & Public Health | Diagnostic criteria | FSHD | Clinical phenotype | Disease classification | Neuroradiology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Genetic Predisposition to Disease | Muscular Dystrophy, Facioscapulohumeral - diagnosis | Humans | Middle Aged | Male | Motor Activity | Muscular Dystrophy, Facioscapulohumeral - classification | Phenotype | Neurologic Examination | Age of Onset | Muscular Dystrophy, Facioscapulohumeral - pathology | Adult | Family | Female | Italy | Registries | Aged | Muscle Strength | Observer Variation | Facioscapulohumeral muscular dystrophy | Complications and side effects | Care and treatment | Diagnosis | Research | Index Medicus | Original Communication
Journal Article
Muscle & nerve, ISSN 0148-639X, 08/2010, Volume 42, Issue 2, pp. 213 - 217
clinical severity score | Kappa‐statistic | clinical evaluation form | muscle weakness distribution | facioscapulohumeral muscular dystrophy | Facioscapulohumeral muscular dystrophy | Kappa-statistic | Muscle weakness distribution | Clinical evaluation form | Clinical severity score | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Nervous system as a whole | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Nervous system (semeiology, syndromes) | Severity of Illness Index | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Reproducibility of Results | Muscle Weakness - diagnosis | Muscular Dystrophy, Facioscapulohumeral - diagnosis | Humans | Middle Aged | Male | Muscle Weakness - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Muscle Weakness - physiopathology | Muscular dystrophy | Index Medicus
Journal Article
BMJ open, ISSN 2044-6055, 01/2016, Volume 6, Issue 1, pp. e007798 - e007798
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Severity of Illness Index | Humans | Middle Aged | Kaplan-Meier Estimate | Child, Preschool | Genotype | Infant | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Young Adult | Phenotype | Adolescent | Age of Onset | Alleles | Adult | Female | Italy | Registries | Nuclear Proteins - genetics | Child | Infant, Newborn | Studies | Genotype & phenotype | Laboratories | Families & family life | Family medical history | Age | Muscular dystrophy | Index Medicus
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