Results 111 to 120 of about 47,175 (263)

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

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

Case Report: Neuro-Imaging Findings in Ataxia Telangiectasia

Journal of Rehabilitation, 2004
Ataxia Telangiectasia (AT) is an autosomal recessive inherited disorder in which cutaneous and scleral Telangiectasia, cerebellar ataxia and immunodeficiency occur.
Farhad Mahvelati, Seyyed Hossein Tonekaboni   +1 more
doaj  

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +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

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Teaching NeuroImage: Cerebellar Atrophy Due to JC Virus Granule Cell Neuronopathy: A Clinical Syndrome Distinct From Classic PML. [PDF]

Neurology, 2023
Silva-Rosas C, Abudinén G, Quijada-Riquelme A, Angus-Leppan H.   +3 more
europepmc   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants. [PDF]

Front Genet, 2022
Liu L, Su R, Huang P, Li X, Xiong J, Xiao Y, Mao D, Liu L.   +7 more
europepmc   +1 more source

Cerebellar Atrophy [PDF]

Proceedings of the Royal Society of Medicine, 1948
openaire   +1 more source