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JAMA - Journal of the American Medical Association, ISSN 0098-7484, 2014, Volume 311, Issue 6, p. 625
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 04/2019, Volume 29, pp. 55 - 70
Congenital myopathies (CM) are a genetically heterogeneous group of neuromuscular disorders most commonly presenting with neonatal/childhood-onset hypotonia... 
MUSCLE WEAKNESS | OPERATED CA2+ ENTRY | EARLY-ONSET MYOPATHY | RYR1 MUTATIONS | CENTRONUCLEAR MYOPATHY | PEDIATRICS | DOMINANT NEMALINE MYOPATHY | NECKLACE FIBERS | PHENOTYPIC SPECTRUM | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | CENTRAL CORE DISEASE | Nervous system diseases | Genetic disorders | Molecular genetics | Children's hospitals
Journal Article
JAMA, ISSN 0098-7484, 10/2013, Volume 310, Issue 15, pp. 1591 - 1600
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy | Index Medicus
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 10/2014, Volume 85, Issue 10, p. 161
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 05/2016, Volume 87, Issue 5, pp. 512 - 519
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2018, Volume 13, Issue 3, pp. e0194540 - e0194540
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage,... 
SARCOLEMMA | DMD | THERAPY | EXPRESSION | MULTIDISCIPLINARY SCIENCES | MOUSE | Fluorescent Antibody Technique - instrumentation | High-Throughput Screening Assays - instrumentation | Fluorescent Antibody Technique - methods | Humans | Child, Preschool | Muscular Dystrophy, Duchenne - pathology | Clinical Trials as Topic | Image Processing, Computer-Assisted - methods | Muscle Fibers, Skeletal - metabolism | Oligonucleotides, Antisense - genetics | Dystrophin - genetics | Biopsy | Adolescent | Software | Laminin - metabolism | Muscular Dystrophy, Duchenne - genetics | Spectrin - metabolism | Muscular Dystrophy, Duchenne - therapy | Child | Dystrophin - metabolism | Sarcolemma - metabolism | Genetic Therapy - methods | High-Throughput Screening Assays - methods | Muscular Dystrophy, Duchenne - diagnosis | Usage | Duchenne muscular dystrophy | Physiological aspects | Development and progression | Fluorescent antibody technique | Genetic aspects | Research | Immunofluorescence | Dystrophin | Spectrin | Neurosciences | Image processing | Neuropathology | Oligonucleotides | Childrens health | Fluorescence | Clinical trials | Becker's muscular dystrophy | Neurosurgery | Muscular dystrophy | Image acquisition | Fibers | Proteins | Laminin | Rodents | Duchenne's muscular dystrophy | Physiology | Labeling | Localization | Sarcolemma | Medical research | Neuromuscular diseases | Muscles | Research projects | Antisense oligonucleotides | Muscle contraction | Skeletal muscle | Neurology | Image analysis | Hospitals | Protein expression | Bone mineral density | Dystrophy | Mutation | Gene therapy | Methods | Index Medicus
Journal Article
Optics Express, ISSN 1094-4087, 12/2009, Volume 17, Issue 25, pp. 23058 - 23065
The influence of nano textured front contacts on the optical wave propagation within microcrystalline thin-film silicon solar cell was investigated. Periodic... 
AMORPHOUS-SILICON | MICROCRYSTALLINE SILICON | OPTICS | Models, Theoretical | Electric Power Supplies | Solar Energy | Absorption | Computer Simulation | Light | Surface Properties | Membranes, Artificial | Materials Testing | Scattering, Radiation | Silicon - chemistry | Index Medicus
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A65 - A65
HSN1 secondary to SPTLC1/2 mutations is a rare, slowly progressive neuropathy leading to profound sensory loss and variable motor deficit. It is associated... 
Mutation
Journal Article
British Journal of Neurosurgery, ISSN 0268-8697, 01/2018, pp. 1 - 3
We describe the unique case of a patient being diagnosed with a thoracic extradural chordoid meningioma following her presentation with mild lower limb... 
meningioma | Thoracic myelopathy | spinal cord compression | chordoma
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2017, Volume 12, Issue 8, pp. e0182659 - e0182659
Journal Article
Asian Pacific Journal of Tropical Disease, ISSN 2222-1808, 2015, Volume 5, Issue 1, pp. S80 - S84
To characterize the sequence diversity of blood-stage serine repeat antigen-5 (PfSERA5) which is lacking in a malaria-endemic country like India. In this... 
Plasmodium falciparum | Genetic diversity | Serine repeat antigen-5 | Haplotype | Antigenicity index | India
Journal Article