Results 131 to 140 of about 14,859 (310)

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

Transcranial Direct Current Stimulation for Patients With Pharmacoresistant Epileptic Spasms: A Pilot Study

Frontiers in Neurology, 2019
Background: Epileptic spasms (ES) is a severe seizure type and lack of adequate methods for controlling of clinical attacks. Previous studies have indicated that cathodal transcranial direct current stimulation (tDCS) reduces seizure frequency for ...
Dongju Yang, Dongju Yang, Qiaoyi Du, Qiaoyi Du, Zhaoyang Huang, Zhaoyang Huang, Liping Li, Liping Li, Zhang Zhang, Zhang Zhang, Liping Zhang, Xin Zhao, Xin Zhao, Xuan Zhao, Ting Li, Yicong Lin, Yicong Lin, Yuping Wang, Yuping Wang, Yuping Wang, Yuping Wang   +20 more
doaj   +1 more source

Plagiarism penalties [PDF]

, 2015
Research in all areas of sciences and humanities has led to the creation of a highly competitive environment which necessitates reporting of ideas, and discoveries at rapid pace.
Siddiqui, Anwar, Wasay, Mohammad
core   +1 more source

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach [PDF]

, 2015
The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches
Aguiar, L., Amado, M., Calado, A., Catford, R., Dias, P., Fortuna, A., Friend, K, Howell, K., Jorge, P., Leventer, R., Marques, I., Mattiske, T., Mota, M., Pinheiro, C., Ryan, M., Sachdev, R., Santos, R., Shoubridge, C., Soares, C., Soares, G., Sousa, A., Sá, J.   +21 more
core   +3 more sources

The Second Hit Hypothesis in Animal and Human Dystonia: The Role of Peripheral Nerve Trauma and Spinal Cord Injury

Movement Disorders, EarlyView.
The “second‐hit” hypothesis proposes that both a genetic predisposition and an environmental insult—such as peripheral nerve trauma or spinal cord injury—are required for dystonia development. This review explores how neuroinflammation and maladaptive plasticity, triggered by nerve and spinal cord injury, contribute to dystonia pathogenesis.
Lisa Harder‐Rauschenberger, Chi Wang Ip   +1 more
wiley   +1 more source

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

Zdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

Aicardi syndrome – case report and literature review

Annales Academiae Medicae Silesiensis
Aicardi syndrome (AS) is a rare congenital disorder with neurodevelopmental symptoms that in the significant majority of cases occurs in females. It is typically characterized by a classic triad of symptoms: epileptic spasms, agenesis of the corpus ...
Patrycja Ochman-Pasierbek, Przemysław Olczyk, Justyna Paprocka, Magdalena Machnikowska-Sokołowska, Adrianna Doman   +4 more
doaj   +1 more source

Epileptic Encephalopathies, CDKL5 Mutations, and Infantile Spasms

Pediatric Neurology Briefs, 2012
Researchers at the Mayo Clinic, Rochester, MN performed retrospective chart reviews of 6 children with epilepsy and CDKL5 mutations.
J Gordon Millichap
doaj   +1 more source

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy [PDF]

, 2016
Background Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy.
A Escayg, A Ingason, A Ramalingam, A Suls, A Zangaladze, AA Kashevarova, Andrew E. Fry, Angus Clarke, B Lang, BC Lim, C Depienne, Catharine White, CB Catarino, CG Vanoye, Cheney Drew, Clare Taylor, D Carranza Rojo, D Pinto, Daniela T. Pilz, DT Miller, E Daalen van, E Matthews, E Rees, EL Heinzen, Elliott Rees, EM Reinthaler, Emma McCann, Frances Gibbon, G Kirov, Gareth Thomas, George Kirov, GJ Noh, Glyn Jones, GM Cooper, H Meng, H Saitsu, Hayley Archer, HC Mefford, HC Mefford, HC Mefford, HE Yu, Hood Mugalaasi, IA Adzhubei, J Sebat, Jaya Natarajan, JC Hodge, JL Groen, Johann Te Water Naude, K Wang, Kiran Mantripragada, KS Pollard, L Claes, L Weehi Te, LA Harkin, LA Weiss, Louise Hartley, M Bartnik, M Kircher, M Mantegazza, M Shinawi, MA Gillentine, Mark I. Rees, ME Talkowski, Michael J. Owen, Michael P. Kerr, MK Rudd, NA Singh, P Kumar, P Striano, Penny Blake, Peter Holmans, R Grantham, R Ullmann, Rhys H. Thomas, Rose Thompson, S Girirajan, SA Mullen, Sally Davies, SE Heron, Seo-Kyung Chung, Sian Jose, Sian Morgan, SR Williams, T Kleefstra, T Kleefstra, T Kleefstra, VM Kalscheuer, Wellcome Trust Case Control Consortium, X Shi, Y Chen   +89 more
core   +2 more sources

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