Results 181 to 190 of about 433,578 (358)

Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future. [PDF]

Biomolecules
Pauper M, Hentschel A, Tiburcy M, Beltran S, Ruck T, Schara-Schmidt U, Roos A.   +6 more
europepmc   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

Decreasing Disease Severity in Symptomatic, Smn ^−/− ; SMN2 ^+/+ , Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery

, 2011
Jacqueline Glascock, Erkan Y. Osman, Mary J. Wetz, Megan M. Krogman, Monir Shababi, Christian L. Lorson   +5 more
openalex   +2 more sources

Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance [PDF]

, 2012
Giulia Paolella, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Saori Ishii Mauro, Gabriella Esposito, Pietro Vajro   +6 more
openalex   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons, Todd Levine, Charles H. Adler, Bailey Bellaire, Ningshan Wang, Pinky Agarwal, Georgina M. Aldridge, Alexandru Barboi, Daniel Claassen, Virgilio G. H. Evidente, Douglas Galasko, Alejandra Gonzalez‐Duarte, Ramon Gil, Mark Gudesblatt, Stuart H. Isaacson, Horacio Kaufmann, Pravin Khemani, Rajeev Kumar, Guillaume Lamotte, Andy J. Liu, Nikolaus R. McFarland, Mitchell G. Miglis, Adam Reynolds, Gregory A. Sahagian, Marie‐Helene Saint‐Hilaire, Julie B. Schwartzbard, Wolfgang Singer, Michael J. Soileau, Steven Vernino, Patricio Millar Vernetti, Oleg Yerstein, Roy Freeman   +31 more
wiley   +1 more source

A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene

Dante J. Bellai, Mark G. Rae
openalex   +1 more source

Native T1 values identify myocardial changes and stratify disease severity in patients with Duchenne muscular dystrophy [PDF]

, 2016
Laura Olivieri, Peter Kellman, Robert McCarter, R. J. Cross, Michael S. Hansen, Christopher F. Spurney   +5 more
openalex   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Homozygous Expression of a Dominant Gene Causing Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease) [PDF]

, 1974
H. Warner Kloepfer, James M. Killian
openalex   +1 more source

Neuropsychiatric Symptoms Mimicking Dementia in a Patient Treated With Imatinib

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Tyrosine kinase inhibitors are the cornerstone of chronic myeloid leukemia treatment. Newer agents have more potency and a broader spectrum of action, but also a higher potential for neuropsychiatric side effects. We present a case of a patient on imatinib who developed progressive cognitive, mood, and behavioral alterations.
Ashley Jones, Samuele Bonomi, Keith E. Stockerl‐Goldstein, Randall J. Bateman   +3 more
wiley   +1 more source