Results 181 to 190 of about 600,045 (285)

PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy. [PDF]

Epilepsy Behav Rep, 2022
Motoyama R, Matsudaira T, Terada K, Usui N, Yoshiura KI, Takahashi Y.   +5 more
europepmc   +1 more source

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Neurology, 2016
A. Siekierska, M. Isrie, Yue Liu, C. Scheldeman, Niels Vanthillo, L. Lagae, P. D. de Witte, H. Van Esch, M. Goldfarb, G. Buyse   +9 more
semanticscholar   +1 more source

Are Cochlear Implants Indicated in the Advanced Aging Population?

The Laryngoscope, EarlyView.
India Jackson, Tiffany Peng Hwa, Michael Ruckenstein   +2 more
wiley   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy. [PDF]

Adv Sci (Weinh)
Yiliyaer N, Li X, Guo T, Zhou H, Gong L, Yuan L, Fu Y, Qiao Y, Lui YL, Chen N, Lin P, Cheung HH, Ko H, Meng L, Chen X, Lei Y, Kwan KM, Wang H, Gu S.   +18 more
europepmc   +1 more source

Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation. [PDF]

Ann Indian Acad Neurol, 2021
Mahale RR, Arunachal G, Gautam J, Dutta D, Kovoor J, Mailankody P, Padmanabha H, Mathuranath PS.   +7 more
europepmc   +1 more source

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

American Journal of Human Genetics, 2016
T. Harel, G. Yeşil, Y. Bayram, Z. Coban-Akdemir, W. Charng, E. Karaca, A. Al Asmari, M. Eldomery, J. Hunter, S. Jhangiani, J. Rosenfeld, D. Pehlivan, A. El-Hattab, M. Saleh, C. Leduc, D. Muzny, E. Boerwinkle, R. Gibbs, W. Chung, Ya-Ping Yang, J. Belmont, J. Lupski   +21 more
semanticscholar   +1 more source

High‐Fat Diet Exacerbates Neuropathology in a Transgenic Mouse Model of Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Multiple system atrophy (MSA) is a rare and devastating neurodegenerative disorder. Accumulating clinical and preclinical evidence suggests that diabetes and insulin resistance may adversely influence MSA pathophysiology. Objective We investigated the potential association between diabetes, impaired glucose homeostasis, and MSA ...
Marie‐Laure Arotcarena, Anna Delamarre, Miguel Lopez‐Cuina, Hugo Martin, Elio Balpe, Xavier Fioramonti, Erwan Bezard, Wassilios G. Meissner   +7 more
wiley   +1 more source

Anti-N-Methyl D-Aspartate Receptor Encephalitis Presenting with Progressive Cerebellar Atrophy. [PDF]

Ann Indian Acad Neurol
Haritha S, Sowmini PR, Varghese AM, Lakshmanan S, Velayutham SS, Jeyaraj KM, Kannan V, Saravanan RV, Krishnan M.   +8 more
europepmc   +1 more source

Regenerative Radio Electric Asymmetric Conveyer Treatment in Generalized Cerebral and Cerebellar Atrophy to Improve Motor Control: A Case Report. [PDF]

Cureus, 2022
Rinaldi S, Rinaldi C, Fontani V.
europepmc   +1 more source