Results 71 to 80 of about 9,225,670 (325)

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Brain-Derived Neurotrophic Factor in Multiple Sclerosis Disability: A Prospective Study

Brain Sciences
Multiple sclerosis (MS) is a demyelinating central nervous system disease that leads to neurological disability. Brain-derived neurotrophic factors (BDNFs) are neurotrophins involved in neurodegenerative disorders.
Vitalie Vacaras, Andreea-Cristina Paraschiv, Silvina Iluț, Cristiana Vacaras, Cristina Nistor, Gheorghe-Eduard Marin, Andra Maria Schiopu, Dorian-Traian Nistor, Ștefan Cristian Vesa, Dafin Fior Mureșanu   +9 more
doaj   +1 more source

CD8+ T Cells Are Required For Glatiramer Acetate Therapy in Autoimmune Demyelinating Disease

PLoS ONE, 2013
The exact mechanism of glatiramer acetate (GA, Copaxone®), an FDA-approved immunomodulatory therapy for multiple sclerosis (MS), remains unclear after decades of research. Previously, we have shown that GA therapy of MS induces CD8+ T cell responses that
A. Tyler, Jason P. Mendoza, Mihail Firan, Nitin J. Karandikar   +3 more
semanticscholar   +1 more source

Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

Annals of Neurology, EarlyView.
Recapitulative schema of different exploratory levels of the evolutionary impact on human neurological diseases. Clinical neuroscience focuses on the mechanisms of brain function, but this approach falls short of insights into how the central nervous system (CNS) evolved, both in health and disease.
Nico J. Diederich, Martin Brüne, John S. Allen, Nicole Bender, Emiliano Bruner, Jean‐Pierre Changeux, Corrado Cali, Olga Dolgova, Anne Grünewald, Geneviève Konopka, Peng Jin, Roger Lemon, Gilberto Levy, Pierre Magistretti, Markus J. Rantala, Kathleen S. Rockland, Roger Sullivan, Annie Swanepoel, Toshiki Uchihara, Katrin Amunts, Christopher G. Goetz   +20 more
wiley   +1 more source

Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and HLA‐DRB1*1501 Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset

Annals of Neurology, EarlyView.
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501. The underlying molecular mechanisms are unclear. Here, we examined mediation through differential DNA methylation (DNAm) to better understand possible ...
Steve Simpson‐Yap, Ellen Morwitch, Samuel A. Tanner, Sarah M. Thomson, Alex Eisner, Rod A. Lea, Trevor J. Kilpatrick, Jeannette Lechner‐Scott, Rodney J. Scott, Alexandre Xavier, Vicki E. Maltby, Robyn M. Lucas, Bruce V. Taylor, Brett A. Lidbury, Simon A. Broadley, Ingrid van der Mei, Mehari Woldemariam Merid, Boris Novakovic, Richard Saffery, Anna Karin Hedström, Pernilla Stridh, Tomas Olsson, Maja Jagodic, Lars Alfredsson, Anne‐Louise Ponsonby, for the Ausimmune Investigator Group, Caron Chapman, Alan Coulthard, Keith Dear, Terry Dwyer, Trevor Kilpatrick, Robyn Lucas, Tony McMichael, Anne‐Louise Ponsonby, Bruce Taylor, Patricia Valery, Ingrid van der Mei, David Williams   +37 more
wiley   +1 more source

Therapeutic Apheresis in Pediatric Patients with Acute CNS Inflammatory Demyelinating Disease

Blood Purification, 2013
Background/Aims: In adults, plasma exchange (PE) has been shown to be an efficient treatment for severe relapses of acute inflammatory CNS demyelinating diseases.
M. Koziolek, J. Mühlhausen, T. Friede, D. Ellenberger, M. Sigler, B. Huppke, J. Gärtner, G. Müller, P. Huppke   +8 more
semanticscholar   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, EarlyView.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Coexistence of Multiple Sclerosis and Brain Tumor: An Uncommon Diagnostic Challenge

Advanced Biomedical Research, 2017
Nonneoplastic demyelinating processes of the brain with mass effect on magnetic resonance imaging can cause diagnostic difficulties. It requires differential diagnosis between the tumefactive demyelinating lesion and the coexistence of neoplasm.
Fatemeh Abrishamchi, Fariborz Khorvash
doaj   +1 more source

Monitoring Treatment‐Associated Receptor Expression in Multiple Sclerosis Using a Newly Developed Panel for Spectral Flow Cytometry

Cytometry Part A, EarlyView.
ABSTRACT Multiple sclerosis (MS) is a chronic, immune‐mediated autoimmune disease characterized by the infiltration of autoreactive T cells and other inflammatory immune cells from the periphery into the central nervous system. Currently, there is no cure for MS, and treatment consists of disease‐modifying therapies (DMTs), most of which modify or ...
Katharina Robichon, Jennifer Taylor, Imogen Milner, Kathryn Elizabeth Hally, Anne Camille La Flamme   +4 more
wiley   +1 more source

Combinatorial expression of glial transcription factors induces Schwann cell‐specific gene expression in mouse embryonic fibroblasts

Developmental Dynamics, EarlyView.
Abstract Background Schwann cells provide peripheral nerve trophic support, myelinate axons, and assist in repair. However, Schwann cell repair capacity is limited by chronic injury, disease, and aging. Schwann cell reprogramming is a cellular conversion strategy that could provide a renewable cell supply to repair injured nerves.
Lauren Belfiore, Anjali Balakrishnan, Yacine Touahri, Dawn Zinyk, Humna Noman, Satoshi Okawa, Jeff Biernaskie, Carol Schuurmans   +7 more
wiley   +1 more source