Results 61 to 70 of about 502,314 (315)

Myoclonus generators in sialidosis

Clinical Neurophysiology Practice, 2022
Objective: Sialidosis is an inborn error of metabolism. There is evidence that the myoclonic movements observed in this disorder have a cortical origin, but this mechanism does not fully explain the bilaterally synchronous myoclonus activity frequently ...
Felipe Vial, Patrick McGurrin, Sanaz Attaripour, Alesandra d'Azzo, Cynthia J. Tifft, Camilo Toro, Mark Hallett   +6 more
doaj   +1 more source

An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders [PDF]

, 2019
Background Recently an increasing number of digital tools to aid clinical work have been published. This study’s aim was to create an algorithm which can assist physicians as a “digital expert” with the differential diagnosis of central ocular motor ...
Kremmyda, Olympia, Kraus, Ludwig, Barceló, Sebastià, Feil, Katharina, Strupp, Michael, Bremova-Ertl, Tatiana   +5 more
core   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Movement disorders phenomenology in focal motor seizures

, 2018
Introduction: Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain. Methods: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling ...
Di Gennaro, Giancarlo, Defazio G, Fabbrini G., Iorio, Raffaele, Fabbrini, Giovanni, Borlot, Felipe, Di Bonaventura C, Fasano, Alfonso, Andrade D, Striano P., Espay, Alberto J., Fasano A, Bove F., Andrade, Danielle, Di Bonaventura, Carlo, Bui E, Espay AJ, Fabbrini G, Luigetti M., Di Gennaro G., Munhoz R. P., Defazio, Giovanni, Andrade D., Borlot F, Fasano A., Defazio G., Luigetti, Marco, Morgante, Francesca, Katzberg H., Morgante F, BOVE, FRANCESCO, Bui E., Di Bonaventura C., Borlot F., Luigetti M, Katzberg, Hans, Striano, Pasquale, Iorio R3, Bui, Esther, Morgante F., Iorio R., Di Gennaro G, Munhoz RP, Berardelli, Alfredo, Espay A. J., Striano P, Katzberg H, Bove F, Munhoz, Renato P., Berardelli A.   +49 more
core   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

A proposal for a comprehensive grading of Parkinson's disease severity combining motor and non-motor assessments: meeting an unmet need. [PDF]

, 2013
Non-motor symptoms are present in Parkinson's disease (PD) and a key determinant of quality of life. The Non-motor Symptoms Scale (NMSS) is a validated scale that allows quantifying frequency and severity (burden) of NMS.
Brown, Richard J., Jose Manuel Rojo (382888), Stocchi, Fabrizio, Chaudhuri, Kallol Ray, Martinez-Martin, Pablo, Richard J. Brown (382891), David J. Brooks (316043), Brooks, David J., Ray Chaudhuri, K, Antonini, A, Kallol Ray Chaudhuri, Stocchi, F, Schapira, Anthony H. V., Richard G Brown, Brooks, David J, Anthony H. V. Schapira (139480), Fabrizio Stocchi (382889), Odin, Per, Martinez-Martin, P, Rojo, JM, Schapira, AH, Anthony H V Schapira, Fabrizio Stocchi, Per Odin (382890), Antonini, Angelo, Odin, P, Brooks, DJ, Kallol Ray Chaudhuri (382887), David J Brooks, Pablo Martinez-Martin, Odin, Per,, Manuel Rojo, Jose, Ray Chaudhuri, Kallol, Brown, RJ, Rojo, Jose Manuel, Pablo Martinez-Martin (3179352), Schapira, Anthony H V, Brown, Richard J.; id_orcid, Jose Manuel Rojo, Per Odin, Angelo Antonini (222327), Lund University., Angelo Antonini   +42 more
core   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Mirror movements or functional tremor masking organic tremor

Clinical Neurophysiology Practice, 2018
Background: Functional tremors can be diagnosed based on clinical and physiologic criteria such as entrainment, suggestibility, distractibility, variable nature with the associated clinical history of psychosomatic co-morbidities. The current case report
S.H. Merchant, D. Haubenberger, M. Hallett   +2 more
doaj   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source