Results 81 to 90 of about 79,478 (306)

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu, Zhiwei Fang, Huxin Gao, Tinghua Zhang, Tao Zhang, Peng Liu, Hongliang Ren, Wu Yuan   +7 more
wiley   +1 more source

Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. [PDF]

, 2016
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Adibhatla, Aghajanian, Alazami, Alderson, Andrews, Balboa, Balsinde, Barbeito, Beck, Bosveld, Bras, Bras, Breus, Brissot, Broekemeier, Brunetti, Burn, Campanella, Chen, Cozzi, Crichton, Cui, Curtis, Dall'Armi, Daugherty, Davis, Deas, Dehay, Deng, Deschauer, Di Fonzo, Dick, Duran, Dusi, Eckhardt, Edvardson, Elbaz-Alon, Engel, Friedman, Fukunaga, Gadd, Gitler, Gonzalez-Cuyar, Green, Gregory, Gregory, Grünewald, Haack, Hailey, Hallgren, Hama, Hamasaki, Hartig, Hartig, Hayflick, Hayflick, Hill, Hogarth, Hong, Hortnagel, Houlden, Hönscher, Itoh, Iuso, Jana, Jenkins, Jeong, Jiang, Jin, Kaneko, Keller, Keogh, Kondo, Kono, Kotzbauer, Kruer, Kruer, Kruer, Kruer, Kurz, Kühlbrandt, Landouré, Larsson, Lei, Leonardi, Leoni, Levi, Li, Liou, Lu, Maday, Mahadevan, Malik, Mancuso, Manjithaya, Mariño, McNeill, Moreno, Morgan, Morita, Nemazanyy, Nousbeck, Oide, Ong, Paisan-Ruiz, Paisán-Ruiz, Park, Perry, Pivtoraiko, Poli, Polishchuk, Potter, Proikas-Cezanne, Ramirez, Ramonet, Rana, Riku, Ross, Ross, Rouault, Rouault, Roy, Saitsu, Scherz-Shouval, Schmidt, Schneider, Schneider, Seleznev, Shinzawa, Siudeja, Song, Strokin, Strokin, Tan, Tooze, Tsunemi, Usenovic, Vidal, Walia, Williams, Wu, Xu, Yadrick, Yang, Yoshida, Yoshida, Zhang, Zhou, Zorzi   +148 more
core   +1 more source

REEP4 variant analysis in blepharospasm and other neurological disorders

Dystonia
Introduction: In preceding work, a deleterious REEP4 variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with blepharospasm (BSP) in a large African-American pedigree.
Samira Saeirad, Mark S. LeDoux, Mark S. LeDoux   +2 more
doaj   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Assessing vocal changes through spectral analyses of vocalizations in a cerebellar-specific dystonia mouse model

Dystonia
Vocal impairments are a debilitating but understudied feature of several dystonias, including generalized and early-onset genetic forms. Despite growing recognition that cerebellar dysfunction contributes to dystonic pathophysiology, the circuit ...
Austin L. Fitzgerald, Jonathan A. Coello, Alyssa M. Lyon, Alyssa M. Lyon, Breanne L. Dao, Meike E. van der Heijden, Meike E. van der Heijden, Meike E. van der Heijden, Meike E. van der Heijden, Meike E. van der Heijden   +9 more
doaj   +1 more source

Immobilization dystonia

Journal of the Neurological Sciences, 2002
The mechanisms underlying dystonia after injury are unclear. Pain has been implicated as an important factor. We report four patients who exhibited segmental dystonia following removal of a cast, only two of whom experienced pain during casting.
The Neurology Service, Department of Neurology, University of Florida College of Medicine S. Newell Drive, L3-100, Gainesville, FL 32610-0236, USA ( host institution ), Okun, Michael S ( author ), Nadeau, Stephen E ( author ), Rossi, Fabian ( author ), Triggs, William J ( author )   +4 more
openaire   +3 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Symptomatic treatment of children with anti-NMDAR encephalitis. [PDF]

, 2016
AIM: We performed the first study on the perceived benefit and adverse effects of symptomatic management in children with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis.
Brilot, F, Dale, R. C., Hong, M, Jones, H, Mohammad, Ss, Nosadini, M, Pillai, Sc, Sharpe, C   +7 more
core   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources