Results 41 to 50 of about 2,535,115 (155)

Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism [PDF]

, 2004
Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism.
Penniston, JT, Tijssen, Marina AJ, Zaremba, Jacek, Caton, M, Zaremba, J, Bressman, Susan B., Sweadner, KJ, Borg, M, Aguiar, Patricia de Carvalho [UNIFESP], Liu, L, Caton, Marsha, Brashear, A, Dobyns, William B., Aguiar, PD, Borg, Michel, Dobyns, WB, Ozelius, LJ, Bressman, Susan B, Linazasoro, G, Ozelius, Laurie J., Bressman, SB, Ozelius, Laurie J, Sweadner, Kathleen J, Linazasoro, Gurutz, Tijssen, Marina A. J., Tijssen, Marina A.J, Penniston, John T., Liu, Liu, Dobyns, William B, Borg, Miguel, Tijssen, MAJ, Penniston, John T, Brashear, Allison, Sweadner, Kathleen J., de Carvalho Aguiar, Patricia   +34 more
core   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

Cervical dystonia : abnormal cerebral activation patterns related to preparation and execution of hand movement [PDF]

, 2008
Cervical dystonia (CD) is a movement disorder characterized by sustained involuntary muscular contractions which cause repetitive twisting movements and abnormal postures of the head. CD is primarily a brain disorder.
Vries, Paulien Maria de, Vries, Paulien Maria de,   +1 more
core   +14 more sources

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Network mechanisms in rapid-onset dystonia-parkinsonism [PDF]

Rapid-onset dystonia-parkinsonism (RDP) is a rare neurological disorder caused by mutations in the ATP1A3 gene. Symptoms are characterized by a dystonia-parkinsonism.
van Riesen, Christoph, Nikulin, V. ; https://orcid.org/, Möller, M., Nikulin, Vadim V., Nieweler, Johanna A., van Riesen, C., Nieweler, J., Möller, Meret   +7 more
core   +1 more source

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism

, 2022
Introduction: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders
Vallian S., Sadr-Nabavi A., Olfati N., Andrenelli E., Boesch S., Garavaglia B., Invernizzi F., Kopajtich R., Kazemi A., Romito L. M., Capecci M., Shariati M., Straccia G., Zech M., Prokisch H., Winkelmann J., Shoeibi A.   +16 more
core   +2 more sources

Advances in molecular genetic studies of primary dystonia

Chinese Journal of Contemporary Neurology and Neurosurgery, 2013
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures.
Ling-yan MA, Xin-hua WAN
doaj  

Programming of deep brain stimulation of the centromedian nucleus of the thalamus for drug‐resistant epilepsy: A meta‐analysis and proposed programming framework

Epilepsia, EarlyView.
Abstract Objective Although the centromedian nucleus of the thalamus (CM) is an increasingly considered deep brain stimulation (DBS) target for drug‐resistant epilepsy (DRE), there is significant variability in programming practices, which may contribute to heterogenous outcomes.
Mohammed A. AlQahtani, Michal Stern‐Zimmer, Puneet Jain, Suvasini Sharma, Alfonso Fasano, Alexander Rotenberg, George M. Ibrahim, Carolina Gorodetsky   +7 more
wiley   +1 more source

Age-related sexual dimorphism in temporal discrimination and in adult-onset dystonia suggests GABAergic mechanisms. [PDF]

, 2015
Background: Adult onset isolated focal dystonia presenting in early adult life is more frequent in men whereas in middle age it is female predominant.
Daniel G. Healy (12583432), Richard Walsh (12583435), Richard eWalsh, Laura eWilliams, Tim Lynch, Seán O’Riordan, McGovern, Eavan, Cathal Walsh, Richard B Reilly, Michael eHutchinson, Fiona Molloy, Dan G. Healy, Helena eMoore, Cathal eWalsh, Butler, John S, Richard B. Reilly, Sean eO'Riordan, Walsh, Richard, Hutchinson, Michael, Seán O'Riordan (12583438), John S. Butler (10692657), Ines M. Beiser (12583483), Ines M. Beiser, O\u27Riordan, Sean, Beiser, Ines M., Michael Hutchinson, Reilly, Richard B, Healy, Dan G, Moore, Helena, Williams, Laura, Reilly, Richard B., Helena Moore (12583429), Daniel G Healy, Butler, John S., Eavan McGovern (6677801), Helena Moore, Lynch, Timothy, Walsh, Cathal Dominic, Molloy, Fiona, Eavan eMcGovern, Tim Lynch (244259), Cathal Dominic Walsh (12583351), Laura Williams (552566), Laura Williams, Eavan McGovern, Walsh, Cathal, Fiona eMolloy, John S. Butler, Lynch, Tim, Richard Walsh, Ines M Beiser, Butler, John, Michael Hutchinson (133566), Healy, Daniel G., Beiser, Ines M, Richard B. Reilly (7935629), Tim eLynch, Fiona Molloy (12583426)   +57 more
core   +1 more source