Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 2014, Volume 72, Issue 1, pp. 1 - 2
Journal Article
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 06/2018, Volume 6, Issue 6, pp. 375 - 384
Introduction: Centronuclear myopathy (CNM) is a rare congenital muscle disease in which the most important skeletal muscle histological characteristic is the...
RYR1 | centronuclear myopathy | dynamin-2 | myotubularin | myotubular myopathy | BIN1 | gene therapy | congenital myopathy | PROLONGS SURVIVAL | MARIE-TOOTH-DISEASE | GENOTYPE-PHENOTYPE CORRELATIONS | NECKLACE FIBERS | CONGENITAL MYOPATHIES | PHOSPHATIDYLINOSITOL 5-PHOSPHATE | SKELETAL-MUSCLE | RYR1 MUTATIONS | PHARMACOLOGY & PHARMACY | DYNAMIN 2 | LINKED MYOTUBULAR MYOPATHY
RYR1 | centronuclear myopathy | dynamin-2 | myotubularin | myotubular myopathy | BIN1 | gene therapy | congenital myopathy | PROLONGS SURVIVAL | MARIE-TOOTH-DISEASE | GENOTYPE-PHENOTYPE CORRELATIONS | NECKLACE FIBERS | CONGENITAL MYOPATHIES | PHOSPHATIDYLINOSITOL 5-PHOSPHATE | SKELETAL-MUSCLE | RYR1 MUTATIONS | PHARMACOLOGY & PHARMACY | DYNAMIN 2 | LINKED MYOTUBULAR MYOPATHY
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 04/2018, Volume 76, Issue 4, p. 265
Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene....
Phenotypes | Intravenous administration | Transcription | Motor neuron diseases | Copy number | SMN protein | Insertion | Antisense oligonucleotides | Spinal muscular atrophy
Phenotypes | Intravenous administration | Transcription | Motor neuron diseases | Copy number | SMN protein | Insertion | Antisense oligonucleotides | Spinal muscular atrophy
Journal Article
ARQUIVOS DE NEURO-PSIQUIATRIA, ISSN 0004-282X, 01/2014, Volume 72, Issue 1, pp. 1 - 2
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 04/2018, Volume 76, Issue 4, pp. 265 - 272
Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene....
Genetic therapy | Antisense oligonucleotides | Motor neuron disease | Spinal muscular atrophy | motor neuron disease | CLINICAL-TRIAL | SURVIVAL MOTOR-NEURON | PSYCHIATRY | PHENOTYPE | SMN COMPLEX | IDENTIFICATION | NEUROSCIENCES | NUSINERSEN | genetic therapy | antisense oligonucleotides | COPY NUMBER | spinal muscular atrophy | GENE-THERAPY | MICE | NETHERLANDS | oligonucleotídeos antissenso | atrofia muscular espinhal | terapia genética | doença do neurônio motor
Genetic therapy | Antisense oligonucleotides | Motor neuron disease | Spinal muscular atrophy | motor neuron disease | CLINICAL-TRIAL | SURVIVAL MOTOR-NEURON | PSYCHIATRY | PHENOTYPE | SMN COMPLEX | IDENTIFICATION | NEUROSCIENCES | NUSINERSEN | genetic therapy | antisense oligonucleotides | COPY NUMBER | spinal muscular atrophy | GENE-THERAPY | MICE | NETHERLANDS | oligonucleotídeos antissenso | atrofia muscular espinhal | terapia genética | doença do neurônio motor
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 01/2014, Volume 72, Issue 1, pp. 1 - 2
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2009, Volume 17, Issue 6, pp. 703 - 710
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting...
DEMYELINATING NEUROPATHIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | LIABILITY | CMT | MODEL | MUTATION DISTRIBUTION | SENSORY NEUROPATHY TYPE-1 | GENETICS & HEREDITY | neuropathy | HEREDITARY NEUROPATHY | DUPLICATION | MPZ GENE | PRESSURE PALSIES | Pediatrics | Phenotypes | Copy number | Diagnostic tests | Genes | Teeth | Clinical trials | Population studies | Genetic diversity | Neuropathy | Peripheral neuropathy | Genetic screening | Medicine | Genotype & phenotype | Signal transduction | Neurology | Genetic counseling | Charcot-Marie-Tooth disease | Sensory neurons | Genetics | Mutation | Age
DEMYELINATING NEUROPATHIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | LIABILITY | CMT | MODEL | MUTATION DISTRIBUTION | SENSORY NEUROPATHY TYPE-1 | GENETICS & HEREDITY | neuropathy | HEREDITARY NEUROPATHY | DUPLICATION | MPZ GENE | PRESSURE PALSIES | Pediatrics | Phenotypes | Copy number | Diagnostic tests | Genes | Teeth | Clinical trials | Population studies | Genetic diversity | Neuropathy | Peripheral neuropathy | Genetic screening | Medicine | Genotype & phenotype | Signal transduction | Neurology | Genetic counseling | Charcot-Marie-Tooth disease | Sensory neurons | Genetics | Mutation | Age
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2019, Volume 86, Issue 5, pp. 803 - 803
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 04/2018, Volume 76, Issue 4, pp. 265 - 272
ABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the...
PSYCHIATRY | NEUROSCIENCES
PSYCHIATRY | NEUROSCIENCES
Journal Article
Annals of Neurology, ISSN 0364-5134, 09/2019, Volume 86, Issue 3, pp. 458 - 462
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first...
Neuroimaging | Atrophy | Brain | Phenotypes | Magnetic resonance imaging | Abnormalities | SMN protein | Spinal muscular atrophy
Neuroimaging | Atrophy | Brain | Phenotypes | Magnetic resonance imaging | Abnormalities | SMN protein | Spinal muscular atrophy
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2014, Volume 9, Issue 10, p. e110888
Inherited myopathies are a heterogeneous group of disabling disorders with still barely understood pathological mechanisms. Around 40% of afflicted patients...
SKELETAL-MUSCLE | DIAGNOSIS | MUTATIONS CAUSE | ACTIN | MULTIDISCIPLINARY SCIENCES | DEPENDENT CALCIUM-CHANNEL | DISORDER | GIRDLE MUSCULAR-DYSTROPHY | CONGENITAL MYOPATHIES | SPECTRUM | PROTEINS | Genetic Predisposition to Disease | Phenotype | Humans | Genetic Association Studies - methods | Muscular Diseases - genetics | Gene Regulatory Networks | Data Mining - methods | Gene Ontology | Disease | Genes | Genomics | Disorders | Data mining | Muscular dystrophy | Gene sequencing | Proteins | Literature reviews | Next-generation sequencing | Annotations | Lists | Genetic analysis | Localization | Signatures | Data analysis | Congenital diseases | Muscles | Data processing | Gene expression | Skeletal muscle | Musculoskeletal system | Genetic counseling | Stem cells | Mutation | Protein interaction | Myopathy
SKELETAL-MUSCLE | DIAGNOSIS | MUTATIONS CAUSE | ACTIN | MULTIDISCIPLINARY SCIENCES | DEPENDENT CALCIUM-CHANNEL | DISORDER | GIRDLE MUSCULAR-DYSTROPHY | CONGENITAL MYOPATHIES | SPECTRUM | PROTEINS | Genetic Predisposition to Disease | Phenotype | Humans | Genetic Association Studies - methods | Muscular Diseases - genetics | Gene Regulatory Networks | Data Mining - methods | Gene Ontology | Disease | Genes | Genomics | Disorders | Data mining | Muscular dystrophy | Gene sequencing | Proteins | Literature reviews | Next-generation sequencing | Annotations | Lists | Genetic analysis | Localization | Signatures | Data analysis | Congenital diseases | Muscles | Data processing | Gene expression | Skeletal muscle | Musculoskeletal system | Genetic counseling | Stem cells | Mutation | Protein interaction | Myopathy
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 9/2019, Volume 138, Issue 3, pp. 477 - 495
Nemaline myopathy (NM) is a skeletal muscle disorder caused by mutations in genes that are generally involved in muscle contraction, in particular those...
Pathology | Lamin | Neurosciences | Medicine & Public Health | Nemaline myopathy | Actin | Microtubules | Nuclear envelope | Skeletal muscle | TRANSCRIPTION | MYONUCLEAR DOMAIN SIZE | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | ANCHORAGE | ENVELOPE | DREIFUSS MUSCULAR-DYSTROPHY | MUTATIONS | DYSFUNCTION | THIN FILAMENT LENGTH | Medical research | Chromatin | Muscles | Medicine, Experimental | Cytoskeletal proteins | Genetic aspects | Gene expression | Animal models | Transcription | Cortex | Contractility | Mechanical properties | Muscle contraction | Defects | Musculoskeletal system | Morphology | Cytoskeleton | Mutation | Myopathy | Original Paper
Pathology | Lamin | Neurosciences | Medicine & Public Health | Nemaline myopathy | Actin | Microtubules | Nuclear envelope | Skeletal muscle | TRANSCRIPTION | MYONUCLEAR DOMAIN SIZE | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | ANCHORAGE | ENVELOPE | DREIFUSS MUSCULAR-DYSTROPHY | MUTATIONS | DYSFUNCTION | THIN FILAMENT LENGTH | Medical research | Chromatin | Muscles | Medicine, Experimental | Cytoskeletal proteins | Genetic aspects | Gene expression | Animal models | Transcription | Cortex | Contractility | Mechanical properties | Muscle contraction | Defects | Musculoskeletal system | Morphology | Cytoskeleton | Mutation | Myopathy | Original Paper
Journal Article
International Urogynecology Journal, ISSN 0937-3462, 03/2018, Volume 30, Issue 3, pp. 1 - 12
Introduction and hypothesisAn animal model of vaginal distention (VD) was developed to reproduce the acute urethral injury and deficiency underlying stress...
Urinary incontinence | Muscle | Urethra | Trauma | Collagen | IMPACT | INJURIES | CHILDBIRTH | UROLOGY & NEPHROLOGY | EXPRESSION | OBSTETRICS & GYNECOLOGY | Endothelial growth factors | RNA | Myosin | Muscles | Muscle proteins
Urinary incontinence | Muscle | Urethra | Trauma | Collagen | IMPACT | INJURIES | CHILDBIRTH | UROLOGY & NEPHROLOGY | EXPRESSION | OBSTETRICS & GYNECOLOGY | Endothelial growth factors | RNA | Myosin | Muscles | Muscle proteins
Journal Article
Therapeutics and Clinical Risk Management, ISSN 1176-6336, 05/2018, Volume 14, pp. 903 - 907
Necrotizing autoimmune myopathy is characterized by predominant muscle fiber necrosis and regeneration with little or no inflammation. We describe a...
Necrotizing autoimmune myopathy | Statin | Muscular dystrophy | HMGCR antibody | Cancer | AUTOANTIBODIES | muscular dystrophy | statin | ANTI-3-HYDROXY-3-METHYLGLUTARYL-COENZYME | HEALTH CARE SCIENCES & SERVICES | necrotizing autoimmune myopathy | RISK | cancer | NECROTIZING MYOPATHIES | AUTOIMMUNE MYOPATHY | Viral antibodies | Enzymes | Creatine kinase | Antibodies | Genetic aspects | Creatine | Genetic screening | Statins | Medicine | Edema | Legs | Immunoglobulins | Nuclear magnetic resonance--NMR | Laboratories | Family medical history | Patients | Cancer therapies
Necrotizing autoimmune myopathy | Statin | Muscular dystrophy | HMGCR antibody | Cancer | AUTOANTIBODIES | muscular dystrophy | statin | ANTI-3-HYDROXY-3-METHYLGLUTARYL-COENZYME | HEALTH CARE SCIENCES & SERVICES | necrotizing autoimmune myopathy | RISK | cancer | NECROTIZING MYOPATHIES | AUTOIMMUNE MYOPATHY | Viral antibodies | Enzymes | Creatine kinase | Antibodies | Genetic aspects | Creatine | Genetic screening | Statins | Medicine | Edema | Legs | Immunoglobulins | Nuclear magnetic resonance--NMR | Laboratories | Family medical history | Patients | Cancer therapies
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2017, Volume 134, Issue 6, pp. 889 - 904
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected...
Pathology | Neurosciences | Medicine & Public Health | X-linked myotubular myopathy | Congenital myopathy | X inactivation | Centronuclear myopathy | MTM1 | PROLONGS SURVIVAL | PELIOSIS HEPATIS | X-CHROMOSOME-INACTIVATION | NECKLACE FIBERS | CONGENITAL MYOPATHIES | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | RYR1 MUTATIONS | DOMINANT CENTRONUCLEAR MYOPATHY | CONTIGUOUS GENE SYNDROME | LINKED MYOTUBULAR MYOPATHY | MALE HYPOGENITALISM | Severity of Illness Index | Diagnosis, Differential | Myopathies, Structural, Congenital - physiopathology | Humans | Middle Aged | Child, Preschool | Myopathies, Structural, Congenital - genetics | Phenotype | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Adolescent | Myopathies, Structural, Congenital - pathology | Adult | Female | Heterozygote | Myopathies, Structural, Congenital - diagnosis | Aged | Mutation | Child | Cohort Studies | Genetic aspects | Nucleotide sequencing | DNA sequencing | Neonates | MTM1 gene | Respiratory function | Genetic counseling | Ophthalmoplegia | Females | Males | Nuclei | Myopathy | Life Sciences | Cellular Biology | Santé publique et épidémiologie
Pathology | Neurosciences | Medicine & Public Health | X-linked myotubular myopathy | Congenital myopathy | X inactivation | Centronuclear myopathy | MTM1 | PROLONGS SURVIVAL | PELIOSIS HEPATIS | X-CHROMOSOME-INACTIVATION | NECKLACE FIBERS | CONGENITAL MYOPATHIES | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | RYR1 MUTATIONS | DOMINANT CENTRONUCLEAR MYOPATHY | CONTIGUOUS GENE SYNDROME | LINKED MYOTUBULAR MYOPATHY | MALE HYPOGENITALISM | Severity of Illness Index | Diagnosis, Differential | Myopathies, Structural, Congenital - physiopathology | Humans | Middle Aged | Child, Preschool | Myopathies, Structural, Congenital - genetics | Phenotype | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Adolescent | Myopathies, Structural, Congenital - pathology | Adult | Female | Heterozygote | Myopathies, Structural, Congenital - diagnosis | Aged | Mutation | Child | Cohort Studies | Genetic aspects | Nucleotide sequencing | DNA sequencing | Neonates | MTM1 gene | Respiratory function | Genetic counseling | Ophthalmoplegia | Females | Males | Nuclei | Myopathy | Life Sciences | Cellular Biology | Santé publique et épidémiologie
Journal Article
BioMed Research International, ISSN 2314-6133, 2018, Volume 2018, pp. 5069042 - 15
Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy aged over 50 years. The disease is characterized by a particular...
CYTOSOLIC 5'-NUCLEOTIDASE 1A | AUTOANTIBODIES | PATHOGENESIS | MEDICINE, RESEARCH & EXPERIMENTAL | MYOPATHIES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MUSCLE-FIBERS | DISEASE | PREVALENCE | DIAGNOSTIC-CRITERIA | SARCOIDOSIS | FEATURES | Disease | Infections | Body weight loss | Family medical history | Males | Synuclein | Autophagy | Proteins | Hepatitis | Mitochondria | Human immunodeficiency virus--HIV | Dysphagia | Degeneration | Alzheimer's disease | Hypertension | Limbs | Medical research | Neuromuscular diseases | Activities of daily living | Sarcoidosis | Rheumatology | Muscles | Musculoskeletal system | Neurology | Immunosuppression | Biopsy | Paresis | β-Amyloid | Myositis | Vacuoles | Myopathy
CYTOSOLIC 5'-NUCLEOTIDASE 1A | AUTOANTIBODIES | PATHOGENESIS | MEDICINE, RESEARCH & EXPERIMENTAL | MYOPATHIES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MUSCLE-FIBERS | DISEASE | PREVALENCE | DIAGNOSTIC-CRITERIA | SARCOIDOSIS | FEATURES | Disease | Infections | Body weight loss | Family medical history | Males | Synuclein | Autophagy | Proteins | Hepatitis | Mitochondria | Human immunodeficiency virus--HIV | Dysphagia | Degeneration | Alzheimer's disease | Hypertension | Limbs | Medical research | Neuromuscular diseases | Activities of daily living | Sarcoidosis | Rheumatology | Muscles | Musculoskeletal system | Neurology | Immunosuppression | Biopsy | Paresis | β-Amyloid | Myositis | Vacuoles | Myopathy
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1980 - 1994
SH3 and cysteine‐rich domain‐containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation–contraction coupling (ECC) machinery,...
STAC3 | malignant hyperthermia | excitation–contraction coupling | congenital myopathy | LOCALIZATION | DOMAIN | DIHYDROPYRIDINE RECEPTOR | MUSCLE | SARCOPLASMIC-RETICULUM | RELEASE | II-III LOOP | GENETICS & HEREDITY | PROTEINS | excitation-contraction coupling | EXPRESSION | SH3 | Malignant hyperthermia | Genetic disorders | Sarcolemma | Phenotypes | Immunoprecipitation | Calcium channels (voltage-gated) | Muscle contraction | Potassium chloride | Minority & ethnic groups | Contraction | Skeletal muscle | Depolarization | Sarcoplasmic reticulum | Membrane potential | Hyperthermia | Calcium (reticular) | Myopathy
STAC3 | malignant hyperthermia | excitation–contraction coupling | congenital myopathy | LOCALIZATION | DOMAIN | DIHYDROPYRIDINE RECEPTOR | MUSCLE | SARCOPLASMIC-RETICULUM | RELEASE | II-III LOOP | GENETICS & HEREDITY | PROTEINS | excitation-contraction coupling | EXPRESSION | SH3 | Malignant hyperthermia | Genetic disorders | Sarcolemma | Phenotypes | Immunoprecipitation | Calcium channels (voltage-gated) | Muscle contraction | Potassium chloride | Minority & ethnic groups | Contraction | Skeletal muscle | Depolarization | Sarcoplasmic reticulum | Membrane potential | Hyperthermia | Calcium (reticular) | Myopathy
Journal Article
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy,...
HMSNII | RYR1 | hereditary motor and sensory neuropathy type II | DI‐CMTB | ADCNM | DNM2 | MTM1 | centronuclear myopathy | CMT2M | CMTD1B | myotubular myopathy | BIN1 | endocytosis | Charcot–Marie–Tooth neuropathy | congenital myopathy | Hereditary motor and sensory neuropathy type II | Congenital myopathy | Di-CMTB | Endocytosis | Myotubular myopathy | Charcot-marie-tooth neuropathy | Centronuclear myopathy | DOMAIN | DNM2 MUTATION | NEONATAL ONSET | RYR1 MUTATIONS | GENETICS & HEREDITY | MICE | MARIE-TOOTH-DISEASE | ACTIN | AD-CNM | Charcot-Marie-Tooth neuropathy | SKELETAL-MUSCLE | DI-CMTB | GENE | MUSCLE INVOLVEMENT | Amino Acid Sequence | Sequence Alignment | Dynamin II - chemistry | Genes, Dominant | Genetic Association Studies | Humans | Dynamin II - genetics | Molecular Sequence Data | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | Mutation | Polymorphism, Genetic | Life Sciences | Biochemistry, Molecular Biology | Computer Science | Genetics | Molecular biology | Bioinformatics | Human genetics | chemistry | Dynamin II | Congenital | Genes | Structural | Genetic | diagnosis | Myopathies | Klinisk medicin | Clinical Medicine | genetics | Dominant | Polymorphism
HMSNII | RYR1 | hereditary motor and sensory neuropathy type II | DI‐CMTB | ADCNM | DNM2 | MTM1 | centronuclear myopathy | CMT2M | CMTD1B | myotubular myopathy | BIN1 | endocytosis | Charcot–Marie–Tooth neuropathy | congenital myopathy | Hereditary motor and sensory neuropathy type II | Congenital myopathy | Di-CMTB | Endocytosis | Myotubular myopathy | Charcot-marie-tooth neuropathy | Centronuclear myopathy | DOMAIN | DNM2 MUTATION | NEONATAL ONSET | RYR1 MUTATIONS | GENETICS & HEREDITY | MICE | MARIE-TOOTH-DISEASE | ACTIN | AD-CNM | Charcot-Marie-Tooth neuropathy | SKELETAL-MUSCLE | DI-CMTB | GENE | MUSCLE INVOLVEMENT | Amino Acid Sequence | Sequence Alignment | Dynamin II - chemistry | Genes, Dominant | Genetic Association Studies | Humans | Dynamin II - genetics | Molecular Sequence Data | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | Mutation | Polymorphism, Genetic | Life Sciences | Biochemistry, Molecular Biology | Computer Science | Genetics | Molecular biology | Bioinformatics | Human genetics | chemistry | Dynamin II | Congenital | Genes | Structural | Genetic | diagnosis | Myopathies | Klinisk medicin | Clinical Medicine | genetics | Dominant | Polymorphism
Journal Article