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Sarcoglycanopathies: an enigmatic form of muscular dystrophy - a report of 7 cases, 10/2004
BACKGROUND: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and sarcoglycanopathy is one of the causes of... 
Neurology | Muscular dystrophy, sarcoglycanopathy, SCARMD, LGMD, histochemistry, muscle immunohistochemistry. ni04152
Journal
Acta Myologica, ISSN 1128-2460, 12/2015, Volume 33, Issue 3, pp. 119 - 126
Journal Article
Internal Medicine, ISSN 0918-2918, 2017
A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same... 
DNAJB6 | LGMD syndrome | limb-girdle muscular dystrophy (LGMD) | LGMD1D | LGMD1E | Phe93Leu
Journal Article
Cell Reports, ISSN 2211-1247, 05/2018, Volume 23, Issue 8, pp. 2365 - 2378
Visual neurons that track objects on a collision course are often finely tuned to their target stimuli because this is critical for survival. The presynaptic... 
lateral excitation | LGMD | collision avoidance | muscarine | DCMD | looming | divisive normalization | scopolamine | Index Medicus
Journal Article
INTERNATIONAL JOURNAL OF CANCER, ISSN 0020-7136, 01/2014, Volume 134, Issue 2, pp. 1553 - 1559
Background and purposeWe have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical... 
DIAGNOSTIC-VALUE | NEUROMUSCULAR DISORDERS | INVOLVEMENT | GIRDLE MUSCULAR-DYSTROPHY | PATTERNS | PHENOTYPES | MRI PROTOCOL | limb-girdle muscular dystrophy | LGMD | MYOPATHIES | ONCOLOGY | autosomal dominant LGMD | LGMD1D | DNAJB6 myopathy
Journal Article
07/2010
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive... 
LGMD 2B | muscular dystrophy | dysferlin | Miyoshi myopathy | mini-dysferlin | limb girdle muscular dystrophy | Distal myopathy with anterior tibial onset | dysferlinopathies
Web Resource
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 05/2019, Volume 7, Issue 5, pp. 223 - 232
Introduction: Limb-girdle muscular dystrophies (LGMD) are a clinical and genetically heterogeneous group of muscle diseases presenting with a phenotypic... 
Atrophy | nucleus | dominant LGMD | transportin-3 | LGMD treatment | MUSCLE PATHOLOGY | DIAGNOSIS | PROTEIN | MRI | FAMILY | GENE | FREQUENCY | PHARMACOLOGY & PHARMACY | MUTATIONS | DNAJB6 MYOPATHY
Journal Article
Current Biology, ISSN 0960-9822, 05/2018, Volume 28, Issue 10, pp. 1509 - 1521.e3
Feedforward inhibition is ubiquitous as a motif in the organization of neuronal circuits. During sensory information processing, it is traditionally thought to... 
medulla | LGMD | collision avoidance | lobula giant movement detector | feedforward inhibition | descending contralateral movement detector | DCMD | looming | single neuron computation | Locusts | Medical colleges | Neurosciences | Neurons | Detectors | Index Medicus
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 09/2019, Volume 83, Issue 5, pp. 331 - 347
Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of... 
variant | LGMD | NGS | WES | sarcolglycanopathies | GENE | GENETICS & HEREDITY | Dolichyl-phosphate-mannose-protein mannosyltransferase | Muscular dystrophy | Dystrophy | Index Medicus
Journal Article
Journal of neurophysiology, ISSN 0022-3077, 10/2018, Volume 120, Issue 4, pp. 2049 - 2058
The locust is a widely used animal model for studying sensory processing and its relation to behavior. Due to the lack of genomic information, genetic tools to... 
locust | medulla | LGMD | Semliki Forest virus | optogenetics | SYSTEM | PHYSIOLOGY | INFORMATION | SEMLIKI-FOREST-VIRUS | MODEL | NEUROSCIENCES | CHANNELRHODOPSIN | TARGETED GENE-EXPRESSION | ALPHAVIRUSES | MICE | COLLISION-DETECTION | VECTORS
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019
LGMD1D is an autosomal dominant limb girdle muscular dystrophy caused by variants in the DNAJB6 gene. This is typically an adult-onset disorder characterized... 
LGMD1D | Genotype-phenotype correlation | DNAJB6 | Limb-girdle muscular dystrophy (LGMD) | Exome sequencing
Journal Article
Transactions of the Korean Institute of Electrical Engineers, ISSN 1975-8359, 12/2018, Volume 67, Issue 12, pp. 1671 - 1677
Journal Article
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS, ISSN 1756-2856, 06/2019, Volume 12, p. 1756286419850433
We describe a family with a novel TNPO3 mutation of limb-girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance,... 
LGMD | VALIDATION | GIRDLE MUSCULAR-DYSTROPHY | QUALITY-OF-LIFE | QUESTIONNAIRE | TNPO3 | CLINICAL NEUROLOGY | transportinopathy
Journal Article
NATURE REVIEWS NEUROLOGY, ISSN 1759-4758, 01/2016, Volume 12, Issue 1, pp. 6 - 8
Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy.... 
LGMD | CLINICAL NEUROLOGY | FREQUENCY | Complications and side effects | Care and treatment | Research | Muscular dystrophy
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 07/2019, Volume 62, Issue 7, pp. 103662 - 103662
Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic... 
Limb-girdle muscular dystrophy (LGMD) | Transportin 3 (TNPO3) | Exome sequencing | NUCLEAR IMPORT | INCOMPLETE PENETRANCE | DISEASE | GENETICS & HEREDITY | Index Medicus
Journal Article
Current health sciences journal, ISSN 2067-0656, 10/2015, Volume 41, Issue 4, pp. 385 - 389
Limb Girdle Muscular Dystrophy 2A (LGMD 2A) is the most common form of limb girdle muscular dystrophies caused by mutations in the calpain-3 gene (CAPN-3). The... 
differential diagnosis | DMD | LGMD 2A | Case Report
Journal Article
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