Results 131 to 140 of about 47,077 (263)

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

Reduced Dopamine Transporter Uptake in Dentatorubral‐Pallidoluysian Atrophy

Movement Disorders Clinical Practice, EarlyView.
Kei Okuba, Shugo Fujita, Hitoshi Kawasaki, Genko Oyama   +3 more
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +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

Altered Cerebrospinal Fluid Tryptophan–Kynurenine Pathway Metabolism in Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Alterations in tryptophan–kynurenine (TRP‐KYN) metabolism, which is associated with neuroinflammation, remain unclear in multiple system atrophy (MSA). Objective The aim was to investigate cerebrospinal fluid (CSF) TRP metabolites in MSA and their associations with other biomarkers.
Ryunosuke Nagao, Kazuya Kawabata, Yasuaki Mizutani, Sayuri Shima, Akihiro Ueda, Mizuki Ito, Yasuhiro Maeda, Akihiro Mouri, Hirohisa Watanabe   +8 more
wiley   +1 more source

In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While Downregulations Affect Prominently Itpr1, Usp2 and Non-Coding RNA. [PDF]

Cells, 2023
Reichlmeir M, Canet-Pons J, Koepf G, Nurieva W, Duecker RP, Doering C, Abell K, Key J, Stokes MP, Zielen S, Schubert R, Ivics Z, Auburger G.   +12 more
europepmc   +1 more source

Diagnostic Value of Glycocalyx Shedding in Blood for Differentiating between Parkinson's Disease and Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Blood–brain barrier disruption is increasingly recognized in synucleinopathies, but the role of the endothelial glycocalyx (GLX) in Parkinson's disease (PD) and multiple system atrophy (MSA) remains unclear. Objectives The aim was to determine whether plasma GLX markers differ between PD, MSA, and healthy controls (HC), relate to ...
Jonas Folke, Brian DellaValle, Mathias Lindh Jørgensen, Phillip Bredahl Mogensen, Casper Hempel, Jørgen Rungby, Anne‐Mette Hejl, Annemette Løkkegaard, Lisette Salvesen, Sara Bech, Mette Møller, Erik Hvid Danielsen, Morten Blaabjerg, Matthias Bode, Tomasz Brudek, Susana Aznar   +15 more
wiley   +1 more source

Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy. [PDF]

J Neurodev Disord
Liu Z, He M, Luo X, Pan H, Hu J, Wan Z, Peng Y, Luo Y, Wang H, Mao X.   +9 more
europepmc   +1 more source

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>. [PDF]

Front Cell Dev Biol, 2022
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB.   +31 more
europepmc   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou, Fabian Büchele, Sujitha Mahendran, Lennart Stieglitz, Bettina Balint   +4 more
wiley   +1 more source