Results 161 to 170 of about 166,105 (376)

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe‐Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Heike Jacobi, Ralf‐Dieter Hilgers, Jörg B. Schulz, Kathrin Reetz, on behalf of the EFACTS Study Group   +23 more
wiley   +1 more source

The neuropharmacology of baclofen [PDF]

, 1988
AI Shapovalov, B Ault, B Ault, B Ault, B Ault, B Ault, B Sutor, B Sutor, BH Gähwiler, BH Gähwiler, BW Connors, CF Terrence, CG Swahn, CN Scholfield, CR Cain, D Stevens, DR Curtis, DR Curtis, DR Curtis, DR Gehlert, DR Hill, E Cherubini, E Knutsson, E Mugnaini, E Roberts, E Schlicker, EW Karbon, FK Pierau, FK Pierau, GAR Johnston, GE Fagg, GGS Collins, GP Wilkin, GW Price, H Fukuda, H Keberle, H Möhler, H Ono, HJ Bein, HL Haas, HR Olpe, HR Olpe, HR Olpe, J Davies, J Davies, J Davies, J Swaynok, JJ Dreifuss, JL Henry, JL Henry, JL Henry, JR Bianchine, JR Howe, JW Phillis, K Dunlap, K Koketsu, K Krnjevic, KJ Fotherby, KS Saito, M Desarmenien, M Fillenz, M Inoue, M Inoue, M Kato, MA Simmonds, MR Klee, N Auden, N Ogata, NG Bowery, NG Bowery, NG Bowery, NG Bowery, NR Newberry, NR Newberry, NR Newberry, P Ashby, P Krogsgaard-Larsen, P Polc, PR Wilson, R Benecke, R Capek, RA Davidoff, RD Pinnock, RF Schmidt, RH Evans, RJ Brady, RR Young, RW Birkmayer, S Fox, SJ Enna, SJ Potashner, SJ Potashner, SR Barry, SR Zukin, TH Lanthorn, TJ Blaxter, U Heinemann, U Misgeld, V Ben-Ari, W Haefely, W Haefely, W Laskey, W Laskey, W Zieglgänsberger, WJ Wojcik   +104 more
core   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Spasticity and white matter abnormalities in adult phenylketonuria. [PDF]

, 1992
Pamela McCombe, Daniel B McLaughlin, Jonathan B. Chalk, Nigel N. Brown, J. J. McGill, Michael P. Pender   +5 more
openalex   +1 more source

Smiling Tremor in a Patient with Essential Tremor

Movement Disorders Clinical Practice, EarlyView.
Justus Chunyu Chen, Talyta Grippe, Yasamin Mahjoub, Galit Kleiner, Robert Chen   +4 more
wiley   +1 more source

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

Movement Disorders, EarlyView.
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi, Ylenia Vaia, Clara E. Antonello, Marco Spada, Francesco Porta, Cristina Marinaccio, Claudia Carducci, Thomas Opladen, Jacopo Sartorelli, Federica Maria Zibordi, Daniele Ghezzi, Francesco Nicita, Davide Tonduti   +12 more
wiley   +1 more source

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Immediate Effect of Sensory Level Stimulation on Spasticity in Patients with Post-stroke Hemiplegia

مجله دانشکده پزشکی اصفهان, 2017
Background: Spasticity is one of the impairments in patients with stroke which cause more disability and secondary problems. Now, there are some ways to reduce spasticity such as drugs, exercise, heat, massage, and sensory level electrical stimulation ...
Mahdi Afshar-Safavi, Mehdi Dadgoo, Javad Sarrafzadeh   +2 more
doaj  

Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”

Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc Miller, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

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