Results 161 to 170 of about 600,045 (285)

The humanised CYP2C19 transgenic mouse exhibits cerebellar atrophy and movement impairment reminiscent of ataxia. [PDF]

Neuropathol Appl Neurobiol, 2023
Milosavljević F, Brusini I, Atanasov A, Manojlović M, Vučić M, Oreščanin-Dušić Z, Brkljačić J, Miljević Č, Nikolić-Kokić A, Blagojević D, Wang C, Damberg P, Pešić V, Tyndale RF, Ingelman-Sundberg M, Jukić MM.   +15 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

A Novel RORA Hinge-Region Variant in Adult IDDECA With Cerebellar Atrophy and Marked Response to Valproate. [PDF]

Eur J Neurol
Busco V, Di Lazzaro G, Cimmino AT, Bove F, Saccinto L, Silvestri G, Bentivoglio AR.   +6 more
europepmc   +1 more source

Cerebellar atrophy and its implications on gait in cerebral amyloid angiopathy. [PDF]

J Neurol Neurosurg Psychiatry, 2022
Horn MJ, Gokcal E, Becker AJ, Das AS, Warren AD, Alzheimer Disease Neuroimaging Initiative, Schwab K, Goldstein JN, Biffi A, Rosand J, Polimeni JR, Viswanathan A, Greenberg SM, Gurol ME.   +13 more
europepmc   +1 more source

Breathe, Eat, Talk: Three Essential Ingredients to Quality‐of‐Life Outcomes in Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Breathing, eating, and talking (BET) impairments are common yet frequently underrecognized features of movement disorders. Deficits in respiration, swallowing, voice, and speech may emerge early in the course of a disease, adversely affecting safety, participation, and quality of life.
John Dean, Lena C. O’Flynn, Michelle Ciucci, Cynthia Fox, Jessica E. Huber, Supraja Anand, Maira Rozenfeld Olchik, Jibrin S. Usman, Adam P. Vogel, Bettina Aguiar, Diana Khasanova, Dharshini Manoharan, Lorraine Ramig, Angela Roberts, Federico Rodriguez‐Porcel, Kristina Simonyan, Julie M. Barkmeier‐Kraemer   +16 more
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia. [PDF]

Front Neurol, 2022
Chen J, Xiao J, Chen G, Xu Q, Wu X, Tian L, Huang Z, Xin C, Zhao Y, Guo Z, Zou Y, Wu Q.   +11 more
europepmc   +1 more source

Cerebellar atrophy in Parkinson's disease and its implication for network connectivity.

Brain : a journal of neurology, 2016
C. O’Callaghan, M. Hornberger, J. Balsters, G. Halliday, S. Lewis, J. Shine   +5 more
semanticscholar   +1 more source

Correlation Analysis of Clinical, Imaging, and Genetic Etiologies in Pediatric Hereditary Cerebellar Atrophy: A Single-Center Study. [PDF]

Mol Genet Genomic Med
Jin L, Chen S, Liu Y, She R, Jiang W.
europepmc   +1 more source

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations. [PDF]

Mol Genet Genomic Med, 2022
Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, Craig DW, Szelinger S, Huentelman MJ, Narayanan V, Rangasamy S.   +10 more
europepmc   +1 more source