Results 131 to 140 of about 36,080 (282)

Therapeutic Update on Huntington's Disease: Symptomatic Treatments and Emerging Disease-Modifying Therapies [PDF]

, 2020
Deepa Dash, Tiago Mestre
openalex   +1 more source

It Is Personal: What People with Parkinson's Disease Say Matters Most for Quality of Life

Movement Disorders, EarlyView.
Abstract Background Little is known about what matters most for quality of life in people with Parkinson's disease and how much it varies between individuals. Objective The goal was to define the relative impact of quality of life determinants in people with Parkinson's disease, including variation across individuals and by disease severity, gender ...
Samantha Dorrance, Richa Patel, Glenn T. Stebbins, Jamie Adams, Allison M. Allen, Tara Hastings, Soania Mathur, Onanong Phokaewvarangkul, Gary Rafaloff, Rajasumi Rajalingam, Anette Schrag, Christine Sun, Jennifer Mammen, Connie Marras   +13 more
wiley   +1 more source

Recent approaches on Huntington's disease (Review)

, 2022
Anastasia Palaiogeorgou, Eleni Papakonstantinou, Rebecca Golfinopoulou, Markezina Sigala, Τhanasis Mitsis, Louis Papageorgiou, Io Diakou, Katerina Pierouli, Konstantina Dragoumani, Demetrios�� Spandidos, Flora Bacopoulou, George P. Chrousos, Elias Eliopoulos, Dimitriοs Vlachakis   +13 more
openalex   +2 more sources

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Clinical and Imaging Characteristics of Parkinson's Disease with Negative Alpha‐Synuclein Seed Amplification Assay

Movement Disorders, EarlyView.
Abstract Background The cerebrospinal fluid alpha‐synuclein seed amplification assay (CSFasynSAA) detects alpha‐synuclein aggregation in over 90% of individuals with sporadic PD (sPD). However, the clinical characteristics of sPD with negative CSFasynSAA remain undefined.
Sarah M. Brooker, Jacopo Pasquini, Seung Ho Choi, David‐Erick Lafontant, Seyed‐Mohammad Fereshtehnejad, Yashar Zeighami, Piergiorgio Grillo, Giulietta M. Riboldi, Houman Azizi, Roqaie Moqadam, Un Jung Kang, Kelly N.H. Nudelman, Andrew Siderowf, Caroline M. Tanner, Thomas F. Tropea, Tatiana Foroud, Lana M. Chahine, Brit Mollenhauer, Kalpana M. Merchant, Douglas Galasko, Christopher S. Coffey, Roseanne D. Dobkin, Ethan G. Brown, Roy N. Alcalay, Daniel Weintraub, Kenneth Marek, Tanya Simuni, Paulina Gonzalez‐Latapi, Nicola Pavese, Kathleen L. Poston, the Parkinson's Progression Markers Initiative   +30 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

Huntington's disease Clinical features and etiology.

, 1998
金澤 一郎
openalex   +2 more sources

Validation of the German Version of the Movement Disorder Society Non‐Motor Scale (MDS‐NMS)

Movement Disorders Clinical Practice, EarlyView.
Jonas Bendig, Anika Frank, Adrianna Lipska‐Dieck, Kristof Wunderlich, David Geißler‐Lösch, Isabel Wurster, Roswitha Kemmner, Kathrin Brockmann, Sheng Luo, Christopher G. Goetz, Glenn T. Stebbins, Pablo Martinez‐Martin, Tiago A. Mestre, Alvaro Sanchez‐Ferro, Monica M. Kurtis, Michelle H.S. Tosin, Roberta Balestrino, Chi‐Ying R. Lin, Carmen Gasca‐Salas, Heinz Reichmann, Bjoern H. Falkenburger   +20 more
wiley   +1 more source

Identifying Subcellular Structure Components in Escherichia Coli by Crosslinking and SEC‐MS

PROTEOMICS, EarlyView.
ABSTRACT Cells are comprised of a broad spectrum of structures that compartmentalize biochemical and signaling mechanisms. These structures can be comprised of many biomolecules, but especially lipids, proteins, and nucleic acids. Techniques are limited to quantify or discover new subcellular structures.
Rachel A. Victor, Austin Lipinski, Paul R. Langlais, Jacob C. Schwartz   +3 more
wiley   +1 more source