Results 141 to 150 of about 11,829 (290)

Relevance of components of the hypothalamic–pituitary–gonadal axis in the pathophysiology of nervous system proteinopathies

Revista Habanera de Ciencias Médicas, 2019
Introduction: Several proteinopathies of the nervous system are associated with disturbances in components of the hypothalamic–pituitary–gonadal axis.Objective: To assess the relevance of components of the hypothalamic–pituitary–gonadal axis to the ...
Kenia Hechevarría Bárzaga, Raúl Aguilera Rodríguez, Dennis Almaguer Gotay, Amarilis Álvarez Sosa, Luis Enrique Almaguer Mederos   +4 more
doaj  

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Pace-Induced Saccades in Essential Tremor Differ from Those in Parkinson's Disease and Degenerative Ataxias. [PDF]

J Clin Med
Wójcik-Pędziwiatr M, Rudzińska-Bar M.
europepmc   +1 more source

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Early Neuroimmune Modulation in Hereditary Cerebellar Ataxias: Experimental Opportunities in Zebrafish Models. [PDF]

Cells
Naef V, Giacich M, Damiani D, Santorelli FM.   +3 more
europepmc   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Frontal ataxia: a frequent but underrecognized disorder in the spectrum of ataxias. [PDF]

Arq Neuropsiquiatr
Cassarotti B, Bonilha PAAM, Nunes TEM, Coutinho L, Camargo CHF, Teive HAG.   +5 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. [PDF]

Brain
Erdmann H, Schaub A, Lucas MC, Scholz V, Benet-Pagès A, Becker K, Dineiger C, Mayer V, van Buren I, Breithausen E, Akbari K, Cordts I, Sauer M, Schneider C, Krakowsky R, Schnabel F, Dunker K, Fabritius L, Gerb J, Grabova D, Möhwald K, Näher M, Steinmetz K, Thiessen F, Jäck A, Schneider-Gold C, Zittel S, Petersen C, Schreyer I, Mämecke L, Wilfling S, Wunderlich G, Brenner D, Hellenbroich Y, Muhle K, Huchtemann T, Claus I, Klopstock T, Strupp M, Levin J, Höglinger GU, Huppert D, Becker-Bense S, Filippopulos F, Kilpert F, Leitão E, Kaya S, Depienne C, Schöberl F, Neuhann T, Holinski-Feder E, Zwergal A, Abicht A.   +52 more
europepmc   +1 more source