Search results for "neuromuscular diseases"
showing 10 items of 126 documents
sj-docx-1-eso-10.1177_23969873221098582 – Supplemental material for Vascular risk factors and staging of atherosclerosis in patients and controls: Th…
2022
Supplemental material, sj-docx-1-eso-10.1177_23969873221098582 for Vascular risk factors and staging of atherosclerosis in patients and controls: The Norwegian Stroke in the Young Study by Beenish Nawaz, Annette Fromm, Halvor Øygarden, Geir Egil Eide, Sahrai Saeed, Rudy Meijer, Michiel L Bots, Kristin Modalsli Sand, Lars Thomassen, Halvor Næss and Ulrike Waje-Andreassen in European Stroke Journal
sj-pdf-4-mso-10.1177_2055217320936318 - Supplemental material for Supplementary medication in multiple sclerosis: Real-world experience and potential…
2020
Supplemental material, sj-pdf-4-mso-10.1177_2055217320936318 for Supplementary medication in multiple sclerosis: Real-world experience and potential interference with neurofilament light chain measurement by Katrin Pape, Falk Steffen, Frauke Zipp and Stefan Bittner in Multiple Sclerosis Journal – Experimental, Translational and Clinical
Diagnostic immunohistochemistry in neuromuscular disorders.
2005
Most neuromuscular disorders display only non-specific myopathological features in routine histological preparations. However, a number of proteins, including sarcolemmal, sarcomeric, and nuclear proteins as well as enzymes with defects responsible for neuromuscular disorders, have been identified during the past two decades, allowing a more specific and firm diagnosis of muscle diseases. Identification of protein defects relies predominantly on immunohistochemical preparations and on Western blot analysis. While immunohistochemistry is very useful in identifying abnormal expression of primary protein abnormalities in recessive conditions, it is less helpful in detecting primary defects in …
sj-docx-2-cre-10.1177_02692155231170687 - Supplemental material for Neck–Shoulder Region Training for Chronic Headache in Women: A Randomized Control…
2023
Supplemental material, sj-docx-2-cre-10.1177_02692155231170687 for Neck–Shoulder Region Training for Chronic Headache in Women: A Randomized Controlled Trial by Marjo Rinne, Sanna Garam and Katriina Kukkonen-Harjula, Kari Tokola, Arja Häkkinen, Jari Ylinen, Riku Nikander in Clinical Rehabilitation
Desmin-related neuromuscular disorders
1995
Desmin, the intermediate filament protein of skeletal muscle fibers, cardiac myocytes, and certain smooth muscle cells, is a member of the cytoskeleton linking Z-bands with the plasmalemma and the nucleus. The pathology of desmin in human neuromuscular disorders is always marked by increased amounts, diffusely or focally. Desmin is highly expressed in immature muscle fibers, both during fetal life and regeneration as well as in certain congenital myopathies, together with vimentin. Desmin is also enriched in neonatal myotonic dystrophy and small fibers in infantile spinal muscular atrophy. Focal accretion of desmin may be twofold, in conjunction with certain inclusion bodies, cytoplasmic an…
Jonauskaite_Tables_S1-S14_rev – Supplemental material for Universal Patterns in Color-Emotion Associations Are Further Shaped by Linguistic and Geogr…
2020
Supplemental material, Jonauskaite_Tables_S1-S14_rev for Universal Patterns in Color-Emotion Associations Are Further Shaped by Linguistic and Geographic Proximity by Domicele Jonauskaite, Ahmad Abu-Akel, Nele Dael, Daniel Oberfeld, Ahmed M. Abdel-Khalek, Abdulrahman S. Al-Rasheed, Jean-Philippe Antonietti, Victoria Bogushevskaya, Amer Chamseddine, Eka Chkonia, Violeta Corona, Eduardo Fonseca-Pedrero, Yulia A. Griber, Gina Grimshaw, Aya Ahmed Hasan, Jelena Havelka, Marco Hirnstein, Bodil S. A. Karlsson, Eric Laurent, Marjaana Lindeman, Lynn Marquardt, Philip Mefoh, Marietta Papadatou-Pastou, Alicia Pérez-Albéniz, Niloufar Pouyan, Maya Roinishvili, Lyudmyla Romanyuk, Alejandro Salgado Montej…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
sj-pdf-2-mso-10.1177_2055217320936318 - Supplemental material for Supplementary medication in multiple sclerosis: Real-world experience and potential…
2020
Supplemental material, sj-pdf-2-mso-10.1177_2055217320936318 for Supplementary medication in multiple sclerosis: Real-world experience and potential interference with neurofilament light chain measurement by Katrin Pape, Falk Steffen, Frauke Zipp and Stefan Bittner in Multiple Sclerosis Journal – Experimental, Translational and Clinical
Jonauskaite_OpenPracticesDisclosure_rev – Supplemental material for Universal Patterns in Color-Emotion Associations Are Further Shaped by Linguistic…
2020
Supplemental material, Jonauskaite_OpenPracticesDisclosure_rev for Universal Patterns in Color-Emotion Associations Are Further Shaped by Linguistic and Geographic Proximity by Domicele Jonauskaite, Ahmad Abu-Akel, Nele Dael, Daniel Oberfeld, Ahmed M. Abdel-Khalek, Abdulrahman S. Al-Rasheed, Jean-Philippe Antonietti, Victoria Bogushevskaya, Amer Chamseddine, Eka Chkonia, Violeta Corona, Eduardo Fonseca-Pedrero, Yulia A. Griber, Gina Grimshaw, Aya Ahmed Hasan, Jelena Havelka, Marco Hirnstein, Bodil S. A. Karlsson, Eric Laurent, Marjaana Lindeman, Lynn Marquardt, Philip Mefoh, Marietta Papadatou-Pastou, Alicia Pérez-Albéniz, Niloufar Pouyan, Maya Roinishvili, Lyudmyla Romanyuk, Alejandro Salg…
sj-pdf-1-wso-10.1177_17474930211019568 - Supplemental material for The state of stroke services across the globe: Report of World Stroke Organization…
2021
Supplemental material, sj-pdf-1-wso-10.1177_17474930211019568 for The state of stroke services across the globe: Report of World Stroke Organization–World Health Organization surveys by Mayowa O Owolabi, Amanda G Thrift, Sheila Martins, Walter Johnson, Jeyaraj Pandian, Foad Abd-Allah, Cherian Varghese, Ajay Mahal, Joseph Yaria, Hoang T Phan, Gregory Roth, Seana L Gall, Richard Beare, Thanh G Phan, Robert Mikulik, Bo Norrving and in International Journal of Stroke