Results 71 to 80 of about 245,637 (381)

Intravenous immunoglobulin and intravenous methylprednisolone as optimal induction treatment in chronic inflammatory demyelinating polyradiculoneuropathy: protocol of an international, randomised, double-blind, placebo-controlled trial (OPTIC)

Trials, 2021
Background International guidelines recommend either intravenous immunoglobulin (IVIg) or corticosteroids as first-line treatment for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).
S. R. M. Bus, L. Zambreanu, A. Abbas, Y. A. Rajabally, R. D. M. Hadden, R. J. de Haan, C. A. J. M. de Borgie, M. P. Lunn, I. N. van Schaik, F. Eftimov, on behalf of the OPTIC study group   +10 more
doaj   +1 more source

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum

Brain Sciences, 2023
POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders.
Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita   +7 more
doaj   +1 more source

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Serum levels of matrix metalloproteinases-2 and-9 and their tissue inhibitors in inflammatory neuromuscular disorders [PDF]

, 2006
We monitored serum levels of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) before and during intravenously applied immunoglobulin (IVIG) therapy in 33 patients with chronic immune-mediated neuropathies and myopathies and 15 ...
B.G.H. Schoser, Carmeli E, Choi YC, D. Pongratz, Demestre M, Hartung HP, Kieseier BC, Kugler A, Lee MA, Mirowska D, S. Hurnaus, Schoser BGH, Shapiro S, Sharshar T, W. Mueller-Felber, Wiles CM   +15 more
core   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Animal models of immune-mediated demyelinating polyneuropathies

Autoimmunity
Immune-mediated demyelinating polyneuropathies (IMDPs) are rare disorders in which dysregulated adaptive immune responses cause peripheral nerve demyelinating inflammation and axonal injury in susceptible individuals.
Eroboghene E. Ubogu
doaj   +1 more source

A fresh look at paralytics in the critically ill: real promise and real concern. [PDF]

, 2012
Neuromuscular blocking agents (NMBAs), or "paralytics," often are deployed in the sickest patients in the intensive care unit (ICU) when usual care fails.
Kenyon, Nicholas J, Price, David, Stollenwerk, Nicholas   +2 more
core   +2 more sources

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Dissection and Whole-Mount Immunofluorescent Staining of Mouse Hind Paw Muscles for Neuromuscular Junction Analysis

Bio-Protocol
The neuromuscular junction (NMJ) is a peripheral synaptic connection between a lower motor neuron and skeletal muscle fibre that enables muscle contraction in response to neuronal stimulation.
Rebecca Simkin, Elena Rhymes, Qiuhan Lang, Nicol Birsa, James Sleigh   +4 more
doaj   +1 more source

Balance and gait adaptations in patients with early knee osteoarthritis [PDF]

, 2014
Gait adaptations in people with severe knee osteoarthritis (OA) have been well documented, with increased knee adduction moments (KAM) the most commonly reported parameter.
Duffell, LD, Gulati, V, McGregor, AH, Southgate, DFL   +3 more
core   +1 more source