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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
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
Acta Myologica, ISSN 1128-2460, 2014, Volume 33, Issue 1, pp. 1 - 12
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary muscles of the hip and shoulder... 
LGMD | Limb-girdle muscular dystrophies | NGS | Genetic Predisposition to Disease | Muscular Dystrophies, Limb-Girdle - genetics | Humans | Muscular Dystrophies, Limb-Girdle - physiopathology | Disease Progression | Index Medicus | Invited Review
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
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 10/2017, Volume 5, Issue 10, pp. 769 - 784
Introduction: Limb Girdle Muscular Dystrophies (LGMD) are a clinically heterogeneous group of disorders presenting with a spectrum of disease severity ranging... 
LGMD | treatment | Limb girdle muscular dystrophy | diagnosis | MUSCLE PATHOLOGY | LGMD2A PATIENTS | LAMIN A/C MUTATIONS | NEUROMUSCULAR DISORDERS | ONSET POMPE DISEASE | CALPAIN-3 GENE | PHENOTYPIC VARIABILITY | ALPHA-SARCOGLYCAN | MIYOSHI MYOPATHY | BETA-SARCOGLYCAN | PHARMACOLOGY & PHARMACY
Journal Article
09/2009, ISBN 1405157380, 4
Book Chapter
09/2009, ISBN 1405157380, 5
Book Chapter
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