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2,902 authors found
quering by "Congenital myopathy"
.
Showing
the first 25
sort by ONE Index.
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901
One Index
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Chong, Jessica PhD 0000-0002-1616-2448 |
122 docs (2011 - 2024)
Exome , Mendelian inheritance , Exome Sequencing , Phenotype Analysis , Genetic Testing |
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892
One Index
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Manini, Arianna 0000-0003-3352-5228 |
33 docs (2020 - 2024)
C9orf72 , Motor Neuron , Stroke (engine) , Tocilizumab , Skeletal Muscle Atrophy |
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889
One Index
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Wilmshurst, Jo PhD 0000-0001-7328-1796 |
283 docs (1998 - 2024)
Epilepsy , Status Epilepticus , Etiology , Neurocognitive , Seizures |
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885
One Index
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Metzger, Daniel PhD 0000-0002-5555-046X |
347 docs (1985 - 2024)
Cre recombinase , Osteoimmunology , Osteoclast Differentiation , Osteoblast Differentiation , Bone Resorption |
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878
One Index
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Vassilopoulos, Stéphane PhD 0000-0003-0172-330X |
97 docs (2005 - 2024)
Clathrin-Mediated Endocytosis , Caveolin , Transcellular , Myofibril , Caveolin 1 |
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878
One Index
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Cirak, Sebahattin PhD 0000-0003-3040-6477 |
128 docs (2005 - 2024)
Spinal Muscular Atrophy , Compound heterozygosity , Microcephaly , Congenital myopathy , Congenital myasthenic syndrome |
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877
One Index
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Schuelke, Markus PhD 0000-0003-2824-3891 |
266 docs (1997 - 2024)
Spinal Muscular Atrophy , Myostatin , Compound heterozygosity , Mitochondrial disease , mRNA modification |
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876
One Index
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Agrawal, Pankaj PhD 0000-0003-3255-0456 |
292 docs (1994 - 2024)
Proband , Exome , Clinical Genomics , Exome Sequencing , Neurodevelopmental disorder |
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870
One Index
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Mandel, Jean Louis PhD 0000-0002-0535-6589 |
522 docs (1933 - 2024)
Fragile X Syndrome , Genetic linkage , Adrenoleukodystrophy , Xq28 , FMR1 |
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868
One Index
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Bonnemann, Carsten PhD 0000-0002-5930-2324 |
508 docs (1990 - 2024)
Skeletal Muscle Atrophy , Collagen VI , Congenital myopathy , Congenital muscular dystrophy , Nemaline myopathy |
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867
One Index
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Muntoni, Francesco PhD 0000-0002-9102-5232 |
667 docs (1990 - 2024)
Spinal Muscular Atrophy , Skeletal Muscle Atrophy , Dystrophin , Congenital muscular dystrophy , Exon skipping |
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867
One Index
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Ottenheijm, Coen PhD 0000-0002-8808-4813 |
192 docs (2005 - 2024)
Nemaline myopathy , Diaphragm (acoustics) , Nebulin , Muscle weakness , Skeletal Muscle Atrophy |
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867
One Index
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Bahler, Jurg PhD 0000-0003-4036-1532 |
383 docs (1991 - 2024)
Schizosaccharomyces , Gene Expression , Transcription (linguistics) , RNA Phase Transitions , Gene Set Enrichment Analysis |
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867
One Index
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Bertini, Enrico PhD 0000-0001-9276-4590 |
1164 docs (1877 - 2024)
Spinal Muscular Atrophy , Skeletal Muscle Atrophy , Inborn Errors of Metabolism , Compound heterozygosity , Congenital myopathy |
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866
One Index
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North, Kathryn PhD 0000-0003-0841-8009 |
585 docs (1980 - 2024)
Neurofibromatosis , Nemaline myopathy , Skeletal Muscle Atrophy , ACTN3 Genotype , Athletic Genetics |
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865
One Index
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Mari, Francesco PhD 0000-0001-6914-5812 |
433 docs (1975 - 2024)
Skeletal Muscle Atrophy , Congenital muscular dystrophy , Dystrophin , Exon skipping , Dystroglycan |
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864
One Index
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Bardhan, Mainak PhD 0000-0002-4106-409X |
136 docs (2006 - 2024)
Pandemic , Global health , Limb-girdle muscular dystrophy , Skeletal Muscle Atrophy , Spinal Muscular Atrophy |
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863
One Index
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Kirschner, Janbernd PhD 0000-0003-1618-7386 |
446 docs (1985 - 2024)
Spinal Muscular Atrophy , Skeletal Muscle Atrophy , SMN1 , Tolerability , Congenital muscular dystrophy |
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863
One Index
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Claeys, Kristl PhD 0000-0001-9937-443X |
393 docs (1974 - 2024)
Muscle weakness , Guillain-Barré Syndrome , Skeletal Muscle Atrophy , Spinal Muscular Atrophy , Congenital myopathy |
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863
One Index
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Gautel, Mathias PhD 0000-0003-4027-9803 |
641 docs (1959 - 2024)
Obscurin , Skeletal Muscle Atrophy , Titin Mutations , Myofibril , Congenital myopathy |
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862
One Index
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Rebecca Dunn Folkerth PhD |
232 docs (1988 - 2024)
Neuropathology , Periventricular leukomalacia , Subplate , Human brain , Perinatal Brain Injury |
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862
One Index
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Bryson-Richardson, Robert PhD 0000-0002-9501-8208 |
105 docs (2003 - 2024)
Myofibril , BAG3 , Identification (biology) , Nemaline myopathy , Table (database) |
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861
One Index
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van de Bunt, Martijn 0000-0002-6744-6125 |
143 docs (2004 - 2024)
Genome-wide association study , Genetic association , Glucose Homeostasis , Glucokinase , Glycogen Metabolism |
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860
One Index
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Yu, Mullin Ho-Chung PhD 0000-0002-3017-0807 |
30 docs (2018 - 2023)
Exome , Exome Sequencing , Founder effect , Medical genetics , Neurodevelopmental disorder |
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854
One Index
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Mercuri, Eugenio PhD 0000-0002-9851-5365 |
989 docs (1967 - 2024)
Spinal Muscular Atrophy , Skeletal Muscle Atrophy , Dystrophin , Preterm Infants , SMN1 |
