Results 311 to 320 of about 31,542,963 (350)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

A Conserved Role for Girdin in Basal Body Positioning and Ciliogenesis. [PDF]

Dev Cell, 2016
Nechipurenko IV, Olivier-Mason A, Kazatskaya A, Kennedy J, McLachlan IG, Heiman MG, Blacque OE, Sengupta P.   +7 more
europepmc   +1 more source

Cognitive and Patient‐Reported Outcome Measures in LGI‐1‐IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical outcome measures for autoimmune encephalitis (AE) are not yet well defined. Cognitive outcome measures (CogOs) and patient‐reported outcomes (PROs) may capture the symptoms of AE, beyond clinician‐reported outcomes (ClinROs) (the Modified Rankin Scale [mRS] and Clinical Assessment Scale in Autoimmune Encephalitis [CASE ...
Tatchaporn Ongphichetmetha, Carol Swetlik, Nicolas Thompson, Albert Aboseif, Vineet Punia, Brittany Lapin, Jeffrey A. Cohen, Rachel Galioto, Amy Kunchok   +8 more
wiley   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source

Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro, Manuela Dicarlo, Chiara Zecca, Daniele Urso, Maria Teresa Dell'Abate, Davide Vilella, Francesco Borlizzi, Roberta Zerlotin, Angela Oranger, Graziana Colaianni, Silvia Colucci, Maria Grano, Giancarlo Logroscino   +12 more
wiley   +1 more source

Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono, Satoshi Nozuma, Shota Hirakata, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Eiji Matsuura, Ryuji Kubota, Hiroshi Takashima   +8 more
wiley   +1 more source

Effects of Pharmacologic and Nonpharmacologic Interventions for the Management of Sleep Problems in People With Fibromyalgia: Systematic Review and Network Meta‐Analysis of Randomized Controlled Trials

Arthritis Care &Research, EarlyView.
Objective Fibromyalgia is a chronic condition characterized by widespread musculoskeletal pain and fatigue. Almost everyone with fibromyalgia has sleep problems. We aimed to evaluate the effectiveness and safety of current interventions for the management of fibromyalgia‐related sleep problems.
Jemma Hudson, Mari Imamura, Clare Robertson, Daniel Whibley, Lorna Aucott, Katie Gillies, Paul Manson, Debra Dulake, Abhishek Abhishek, Nicole K. Y. Tang, Gary J. Macfarlane, Miriam Brazzelli   +11 more
wiley   +1 more source

Placebo Effect Sizes in Clinical Trials of Knee Osteoarthritis Using Intra‐Articular Injections of Biologic Agents

Arthritis Care &Research, EarlyView.
Objective Patients with knee osteoarthritis rely on symptomatic treatments, in which up to 75% of the pain reduction can be attributed to the placebo effect. This effect may vary based on treatment type (eg, biologics vs nonbiologic injection) and route of administration (eg, intra‐articular vs topical vs oral).
Johanna M. Borst, Severin Ruoss, Ian Palmer, Trevor Smith, Kenneth Kalunian, Samuel R. Ward   +5 more
wiley   +1 more source

Barriers and Facilitators for Implementing Resilience Coaching for Youth With Chronic Musculoskeletal Pain: Pediatric Rheumatologists’ Perspectives

Arthritis Care &Research, EarlyView.
Objective Promoting Resilience in Stress Management (PRISM) is a resilience coaching program designed for adolescents with chronic illness. We aimed to examine the perceived feasibility, acceptability, and appropriateness of PRISM among pediatric rheumatologists treating adolescents with chronic musculoskeletal pain and obtain recommendations for ...
Sabrina Gmuca, Anyun Chatterjee, Mackenzie McGill, Nellie Butler, Katherine S. Kellom, Jami F. Young, Tonya M. Palermo, Pamela F. Weiss, Abby R. Rosenberg, Peter F. Cronholm   +9 more
wiley   +1 more source