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Neuromuscular Disorders, ISSN 0960-8966, 10/2018, Volume 28, Issue 10, pp. 846 - 856
Here, we describe a new variant of necklace fibres with specific myopathological features that have not been described thus far. They were observed in two... 
3D electron microscopy | Centronuclear myopathy | Necklace fibres | MTM1 | DNM2 | GENOTYPE-PHENOTYPE CORRELATION | DNM2 MUTATION | CONGENITAL MYOPATHIES | AUTOPHAGY | NEUROSCIENCES | CLINICAL NEUROLOGY | MUSCLE PSEUDOHYPERTROPHY | DOMINANT CENTRONUCLEAR MYOPATHY | NEUTROPENIA | DYNAMIN 2 | LINKED MYOTUBULAR MYOPATHY | ONSET | Jewelry | Glutamine
Journal Article
Journal Article
Journal of Physics: Condensed Matter, ISSN 0953-8984, 07/2011, Volume 23, Issue 28, pp. 284108 - 8
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2015, Volume 25, Issue 4, p. 345
Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2)... 
Neurosciences | Necklace fibre | MUSCLE PSEUDOHYPERTROPHY | Clinical Neurology | NEUTROPENIA | MARKER | DNM2 MUTATION | PHENOTYPE | Centronuclear myopathy | Dynamin 2 | LINKED MYOTUBULAR MYOPATHY | Neurovetenskaper
Journal Article
IEEE Transactions on Dielectrics and Electrical Insulation, ISSN 1070-9878, 06/2018, Volume 25, Issue 3, pp. 772 - 777
A new piezoelectric sensor was developed in the shape of a traditional Japanese braided cord known as a Kumihimo by weaving piezoelectric poly-l-lactic acid... 
polymer | Kumihimo | heart beat | fiber | Shape | Optical fiber cables | poly-l-lactic acid | necklace | braided cord | Optical fiber sensors | choker | Piezoelectricity | Wearable sensors | piezoelectricity | FIBERS | PHYSICS, APPLIED | ENGINEERING, ELECTRICAL & ELECTRONIC | Communication systems | Braiding | Polylactic acid | Swallowing | Decoration | Knots
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 33, pp. 14697 - 14702
Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male... 
Animal models | Necklaces | Phosphatases | Muscular diseases | Canines | Dogs | Muscles | Biopsies | Genetic mutation | Skeletal muscle | Congenital myopathy | Animal model | Canine myopathy | Myotubularin | Necklace fibers | myotubularin | CENTRONUCLEAR MYOPATHY | MULTIDISCIPLINARY SCIENCES | MUSCULAR-DYSTROPHY | PHENOTYPE | HOMOLOG | canine myopathy | necklace fibers | FAMILY | PHOSPHATASE MYOTUBULARIN | MUSCLE-FIBERS | DOGS | LIPID PHOSPHATASE | animal model | SURVIVORS | congenital myopathy | Haplotypes | Humans | Cercopithecus aethiops | Molecular Sequence Data | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - veterinary | Green Fluorescent Proteins - genetics | Dog Diseases - pathology | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | Genetic Diseases, X-Linked - genetics | Fluorescent Antibody Technique, Indirect | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Muscle, Skeletal - ultrastructure | Dog Diseases - genetics | Genotype | Microscopy, Electron | Mice, Knockout | Sequence Homology, Amino Acid | Animals | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Mice | Muscle, Skeletal - pathology | Mutation | COS Cells | Muscle diseases | Genetic aspects | Gene mutations | Properties | Identification and classification | Microtubules | MTM1 gene | Myotubes | Exons | Fetuses | X chromosome | proteasomes | Tubules | Data processing | Nuclei | Atrophy | Mitochondria | Biopsy | Protein folding | Age | Myopathy | Life Sciences | Genetics | Biological Sciences
Journal Article
Journal Article
Supramolecular Chemistry, ISSN 1061-0278, 09/2006, Volume 18, Issue 6, pp. 529 - 536
Two [2]-rotaxanes each comprising α-cyclodextrin as the rotor, and with either 3,3′-difluoro- or 3,3′-dichloro-stilbene as the axle and trinitrophenylamino... 
Self assembly | Cyclodextrins | NMR spectroscopy | Crystallography | Rotaxanes | CONJUGATED POLYROTAXANES | self assembly | DIRECTIONAL COORDINATION NETWORK | COMPLEXES | cyclodextrins | CHEMISTRY, MULTIDISCIPLINARY | AZO-DYE | SHUTTLE | DUMBBELL | ALPHA-CYCLODEXTRIN | crystallography | STILBENE | rotaxanes | NECKLACE | BETA-CYCLODEXTRIN
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2018, Volume 28, Issue 4, pp. 339 - 345
We report the case of a 58-year-old woman with a progressive and seemingly sporadic myopathy who, later through whole exome sequencing, was diagnosed as a... 
Centronuclear myopathies | Manifesting female carriers | Congenital myopathies | Necklace fibers | MTM1 | Medical colleges | Gene mutations | Genes | Patient outcomes | Jewelry | Genetic aspects | Infants
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
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article