Results 121 to 130 of about 47,077 (263)

Successful Treatment of Basilar Invagination and Platybasia Associated With Cerebellar Atrophy by Decompression Surgery. [PDF]

J Clin Neurol, 2022
Lee J, Guk HS, Kim M, Lee EJ.
europepmc   +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

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

Novel <i>PNPLA6</i> Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings. [PDF]

JCEM Case Rep
Hussain MA, Kumar V, Chapla A, Thomas N, Jebasingh FK.   +4 more
europepmc   +1 more source

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

Continuous Apomorphine Infusion in Multiple System Atrophy Real‐World Insights From a French Nationwide Retrospective Cohort

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Continuous subcutaneous apomorphine infusion (CSAI) is effective in Parkinson's disease but has not been evaluated in multiple system atrophy (MSA). Objective To assess the 6‐month efficacy and tolerability of CSAI in MSA patients. Methods French multicenter retrospective registry‐based analysis of CSAI use in MSA.
Simon Lamy, Frederique Leh, Alexandra Foubert‐Samier, Soizic Leguy Bonnet, Guillaume Baille, Margherita Fabbri, Margaux Dunoyer, Lise Mantisi, Caroline Giordana, Anaïs El Ouartassi, Olivier Rascol, Wassilios G. Meissner, David Bendetowicz, Marie Vanel, David Grabli, Fabienne Ory‐Magne, Sophie Drapier   +16 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

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

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