Results 121 to 130 of about 161,469 (302)

Clinical Outcome Assessments in Parkinson's Disease: A Scoping Review of Current Rating Scales and Future Needs

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Clinical outcome assessments (COAs) are essential for evaluating symptom severity, treatment response, and disease progression in Parkinson's disease (PD). As clinical knowledge evolves, it is necessary to revisit the recommendation status on the COAs to ensure their continued relevance and validity. Objectives To provide an updated
Evita Papathoma, Panagiota Tsitsi, Nirosen Vijiaratnam, Camila Aquino, Stephen R. Duma, Norbert Kovacs, Kigocha Lameck Okeng'o, Aparna Wagle Shukla, Roongroj Bhidayasiri, Tiago A. Mestre, Alvaro Sanchez Ferro, Alberto J. Espay, Michelle H.S. Tosin, Matej Skorvanek, Ioanna Markaki   +14 more
wiley   +1 more source

Complementary and Integrative Medicine for the Treatment of Tourette's Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background There is widespread interest in complementary and integrative medicine (CIM) among people with Tourette's syndrome (TS). Objective To perform a systematic review of evidence on the use of CIM to reduce tics and improve tic‐related quality of life.
Tamara Pringsheim, Catherine Deans, Saar Anis, Poonam Bhatia, Kevin Black, Yildiz Degirmenci, Donald Gilbert, Andreas Hartmann, Mariam Hull, Irene Malaty, Davide Martino, Alex Medina Escobar, Pablo Mir, Christelle Nilles, Marianna Sarchioto, Jibrin Sammani Usman, Harini Sarva, Katarzyna Smilowksa, Natalia Szejko, Kinga Tomczak, Daniel van Wamelen, Yulia Worbe   +21 more
wiley   +1 more source

Convergence Deficits in Myoclonus‐Dystonia Point to Cerebellar Impairment

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Myoclonus‐dystonia (M‐D) is a monogenic movement disorder, with proposed cerebellar dysfunction. Vergence eye movement deficits, characteristics of degenerative cerebellar disease, have not been studied in M‐D. Cerebellar transcranial alternating current stimulation (tACS) is considered a potential therapeutic approach.
Skadi Gerkensmeier, Christina Bolte, Jan‐Ole Radecke, Feline Hamami, Andreas Sprenger, Christoph Helmchen, Robert Chen, Marcus Callister, Talyta Cortez Grippe, Christine Klein, Norbert Brüggemann, Tobias Bäumer, Alexander Münchau, Anne Weissbach   +13 more
wiley   +1 more source

Molecular Diagnostics in Thyroid Nodules: Current Applications, Clinical Value, and Future Perspective

Med Research, EarlyView.
ABSTRACT Molecular diagnostics have become an important adjunct to ultrasonography and fine‐needle aspiration (FNA) for thyroid nodules, especially in Bethesda III/IV cytology where malignancy risk is uncertain. This narrative review summarizes the diagnostic and prognostic value of key genomic drivers (BRAF V600E, RAS, RET, TERT, and selected fusions)
Guohui Xiao, Min Ding, Zhixue Min, Yihan Dong, Xuanye Cao, Qiang Lu, Cong Chen, Yahui Wu, Xin Guo, Zhen Wu, Jing Xie, Dan Xu, Haizhen Chen, Rongli Xie, Jian Fei   +14 more
wiley   +1 more source

PTC Therapeutics [PDF]

Nature Biotechnology, 2001
openaire   +1 more source

Optimizing Voice Outcomes After Recurrent Laryngeal Nerve Transection: The Role of Early and Supplemental Injection Laryngoplasty

The Kaohsiung Journal of Medical Sciences, EarlyView.
Luo‐Wei Chan, Hsin‐Yi Tseng, Che‐Wei Wu, Tzu‐Yen Huang   +3 more
wiley   +1 more source

Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD‐ADCY5)

Movement Disorders, EarlyView.
Abstract Background Mixed movement disorders linked to ADCY5 (MxMD‐ADCY5) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5. Psychiatric symptoms are suspected to be part of the phenotype. Objective The study aim was to assess psychiatric comorbidities in patients with MxMD‐ADCY5.
Aurélie Méneret, Clément Tarrano, Asya Ekmen, Diane Doummar, Victoria Gonzalez, Christine Tranchant, Mathieu Anheim, Philippe Damier, Eoin Mulroy, Kailash P. Bhatia, Laura Cif, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Florence Riant, Manon Gomes, Vanessa Brochard, Agathe Roubertie, Oriane Trouillard, Caroline Dubacq, Yulia Worbe, Mohamed Doulazmi, Emmanuel Roze   +23 more
wiley   +1 more source

An Open‐Label Phase 1b Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Clinical Activity of ANX005 in Patients with Huntington's Disease

Movement Disorders, EarlyView.
Complement activation is implicated in Huntington's disease; ANX005 is a potent inhibitor of component C1q. ANX005 exhibited a generally manageable safety profile with rapid reduction in C1q in the cerebrospinal fluid. Functional ability on composite Unified Huntington's Disease Rating Scale and total functional capacity was maintained, with potential ...
Rajeev Kumar, Pinky Agarwal, Karen Anderson, Daniel Claassen, Marissa Dean, Andrew Duker, Burton Scott, Benjamin Hoehn, Ann Mongan, Ping Lin, Ellen Cahir‐McFarland, Lori Taylor, Glenn Morrison, Ted Yednock, Sanjay Keswani, Henk‐Andre Kroon   +15 more
wiley   +1 more source

Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading

Orphanet Journal of Rare Diseases
Background Duchenne muscular dystrophy (DMD) is a rare disease that causes progressive muscle degeneration resulting in life-threatening cardiac complications.
Erik Landfeldt, Alberto Alemán, Sophia Abner, Rongrong Zhang, Christian Werner, Ioannis Tomazos, Hanns Lochmüller, Ros M. Quinlivan, Karim Wahbi   +8 more
doaj   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source