Results 131 to 140 of about 79,478 (306)

Editorial: Models, mechanisms, and maturation in developmental dystonia

Dystonia, 2023
Jason S. Gill, Jason S. Gill, Jason S. Gill, Meike E. van der Heijden, Meike E. van der Heijden, Aasef G. Shaikh, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe   +10 more
doaj   +1 more source

Striatal cholinergic interneuron development in models of DYT1 dystonia

Dystonia
Dystonia is a neurodevelopmental disorder characterized by severe involuntary twisting movements, hypothesized to arise from a dysfunctional motor network involving the cortex, basal ganglia, and cerebellum.
Lauren N. Miterko-Myers
doaj   +1 more source

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]

, 2006
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C, DALLAPICCOLA B, DE MICHELE, GIUSEPPE, DE ROSA, ANNA, FILLA, ALESSANDRO, MANCINI P, MARONGIU R, SALVATORE, ELENA, VALENTE EM, VARRONE A, VOLPE G   +10 more
core  

Effort to differentiate essential tremor plus and dystonic tremor using whole exome sequencing: an exploratory study

Dystonia
BackgroundThe clinical differentiation between essential tremor plus (ETP) and dystonic tremor (DT) is challenging. This study aimed at the genetic diagnosis of ETP and DT.MethodsWhole exome sequencing was performed on 50 probands (ETP = 25; DT = 25) and
Sanjay Pandey, Sanjay Pandey, Navneesh Yadav, Shreya Dinesh, Shreya Dinesh, Chandra Shekhar Rawat, Chandra Shekhar Rawat, B. K. Thelma   +7 more
doaj   +1 more source

Watchmaker's Dystonia [PDF]

Movement Disorders Clinical Practice, 2015
Shiro, Horisawa, Nobuhiko, Takeda, Takaomi, Taira   +2 more
openaire   +2 more sources

Reply to: Deprescribing after DBS in Dystonia: Promise, Pitfalls, and a Path Forward

Movement Disorders Clinical Practice, EarlyView.
Marcela A. Montiel, Alfonso Fasano
wiley   +1 more source

Considerations for Initiation and Maintenance of Foslevodopa/Foscarbidopa for Advanced Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background As Parkinson's disease (PD) progresses, motor fluctuations become increasingly difficult to manage with oral medications. Foslevodopa/foscarbidopa (LDp/CDp), delivered as a continuous 24‐h/day subcutaneous infusion, offers continuous levodopa delivery and stable plasma levodopa levels that reduce motor fluctuations. LDp/CDp has been
K. Ray Chaudhuri, Bruno Bergmans, Eric Freire‐Alvarez, Lucie Hopes, Drew S. Kern, Robert S. Kirsner, Giulia Lazzeri, Pedro Mendes‐Bastos, Noriko Nishikawa, Per Odin, Karolina Poplawska‐Domaszewicz, Rajesh Pahwa, Yuval Ramot, Klaus Seppi, Tobias Warnecke, Robert Wiggins, Megha B. Shah, Pavnit Kukreja, Bjoern Fritz, Koray Onuk, Stuart H. Isaacson   +20 more
wiley   +1 more source

Behaviorally coupled oscillations reveal distinct timing roles of basal ganglia and cerebellothalamic circuits in dystonia

Dystonia
As part of a deep brain stimulation (DBS) procedure, direct electrophysiological recordings from thalamic and basal ganglia circuits were obtained from a pediatric participant with secondary dystonia to examine the neural mechanisms of motor timing.
S. Alireza Seyyed Mousavi, Sina Javadzadeh, Mehrnaz Asadi, Richard B. Ivry, Terence D. Sanger, Terence D. Sanger   +5 more
doaj   +1 more source

Case report: Effective globus pallidus internus deep brain stimulation for patient with stiff-person syndrome

Dystonia
Globus pallidus internus (GPi) deep brain stimulation (DBS) was used to treat a stiff-person syndrome (SPS) patient. Prior to implantation, microelectrode recordings measured firing frequencies and patterns (burst index).
Ahmed Mohamed, Ahmed Mohamed, Yizhu Chu, Yizhu Chu, Frhan I. Alanazi, Frhan I. Alanazi, Frhan I. Alanazi, Carlos Aníbal Restrepo Bravo, Juan Sebastián Saavedra Moreno, Juan Sebastián Saavedra Moreno, Juan Sebastián Saavedra Moreno, Luis Fernando Botero-Posada, Luis Fernando Botero-Posada, Adriana Lucia Lopez Rios, Adriana Lucia Lopez Rios, William D. Hutchison, William D. Hutchison, William D. Hutchison, William D. Hutchison   +18 more
doaj   +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