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Journal of Muscle Research and Cell Motility, ISSN 0142-4319, 10/2019
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2019, Volume 86, Issue 1, pp. 129 - 142
Objective To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three‐generation... 
Phenotypes | Tremor | Muscles | Modular structures | Proteins | Phenomenology | Genetic variance | Missense mutation | Molecular modelling | Filaments | Biopsy | Actin | Myosin | Mutation | Tremors | Myopathy
Journal Article
Biophysical Journal, ISSN 0006-3495, 02/2019, Volume 116, Issue 3, pp. 405a - 405a
Journal Article
Biophysical Journal, ISSN 0006-3495, 02/2019, Volume 116, Issue 3, pp. 385a - 386a
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 755 - 762
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 384 - 394
Journal Article
Human Heredity, ISSN 0001-5652, 11/2017, Volume 82, Issue 3-4, pp. 140 - 146
Objectives: The PMCA gene family consists of 4 genes and at least 21 splice variants; among these, the Ca2+ ATPase 4 (PMCA4) gene encodes a plasma membrane... 
Original Paper | Calcium-transporting ATPases | Sperm motility | Male infertility | Population-specific marker | MALE-FERTILITY | MEMBRANE | GENETICS & HEREDITY | CHROMOSOMES | DELETION | ATPASES
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, p. 755
  Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts.... 
Proteins | Genotype & phenotype | Deformities | Genomes | Mutation | Binding sites
Journal Article
Journal Article
Human Heredity, ISSN 0001-5652, 11/2017, Volume 82, Issue 3-4, pp. I - II
Journal Article
Case reports in neurological medicine, ISSN 2090-6668, 2013, Volume 2013, pp. 254950 - 3
Limb-girdle muscular dystrophies (LGMDs) is a heterogeneous group of muscular dystrophies that mostly affect the pelvic and shoulder girdle muscle groups. We... 
Neuromuscular diseases | Hospitals | Biomedical research | Disease | Older people | Muscular system | Mutation | Age | Case Report
Journal Article
Mitochondrial DNA Part A, ISSN 2470-1394, 10/2018, Volume 29, Issue 7, pp. 1115 - 1120
The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by... 
brain MRI | Leigh syndrome | mitochondrial DNA | MITOCHONDRIAL-DNA MUTATIONS | MTATP6 GENE | GENETICS & HEREDITY | MUSCLE | mitochondria DNA | DISEASE PHENOTYPES | MELAS | COMMON-CAUSE | I-DEFICIENCY | CHILDREN | DNA, Mitochondrial - genetics | Humans | Child, Preschool | Female | Infant | Male | Mutation | Leigh Disease - genetics | Leigh Disease - pathology
Journal Article
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