Results 161 to 170 of about 77,401 (305)

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

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

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +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

Brain Imaging Changes Following Deep Brain Stimulation Patients with Parkinson's Disease: A Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor symptoms such as tremors, rigidity, and bradykinesia. Structural brain changes, including atrophy in the midbrain, basal ganglia, and cortical regions such as the frontal and temporal lobes, are observed in advanced stages.
Suraiya Mangra, Stanislaw Szlufik, Chao‐Kai Hu, Alexandre Boutet, Jürgen Germann, Andres M. Lozano   +5 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

PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients. [PDF]

Cerebellum, 2023
Picker-Minh S, Luperi I, Ravindran E, Kraemer N, Zaqout S, Stoltenburg-Didinger G, Ninnemann O, Hernandez-Miranda LR, Mani S, Kaindl AM.   +9 more
europepmc   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source