Results 221 to 230 of about 600,045 (285)

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy. [PDF]

HGG Adv
Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschké P, Hully M, Roux CJ, Lemoine M, Rio M, Boddaert N, Courtin T, Cantagrel V.   +12 more
europepmc   +1 more source

Phase coupling between eye and brain pulsations is bidirectional and modulated by the parasympathetic system – An fMREye study

Acta Ophthalmologica, EarlyView.
Abstract Purpose Physiological pulsations driven by cardiac, respiratory, and vasomotor activity are essential for solute transport within perivascular and perineural cerebrospinal fluid (CSF) pathways that support brain and eye clearance systems. Previous studies have shown that parasympathetic blockade significantly reduces ocular pulsation power and
Ebrahimi Seyed‐Mohsen, Väyrynen Tommi, Huotari Niko, Saarela Ville, Honkamo Marja, Helakari Heta, Järvelä Matti, Korhonen Vesa, Raitamaa Lauri, Kiviniemi Vesa   +9 more
wiley   +1 more source

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review. [PDF]

Epilepsy Behav Rep
Ghasemi MR, Tehrani Fateh S, Hashemi-Gorji F, Sheikhi Nooshabadi M, Alijanpour S, Mardi A, Miryounesi M.   +6 more
europepmc   +1 more source

The immunological landscape of the area postrema in neuromyelitis optica spectrum disorders

Brain Pathology, EarlyView.
Aquaporin‐4 antibody‐positive neuromyelitis spectrum disorder is characterized by large tissue destructive lesions in medulla, spinal cord, and optic nerves, with only partial recovery from clinical symptoms, and by lesions with very little tissue destruction and mostly complete recovery from clinical symptoms, as seen in the area postrema ...
Qian Yu, Yoshiki Takai, Naoya Yamazaki, Sarah Brandl, Katharina M. Mair, Thibault Bouderlique, Maria Eleni Kastriti, Igor Adameyko, Romana Höftberger, Markus Reindl, Jan Bauer, Monika Bradl   +11 more
wiley   +1 more source

Phenytoin-induced cerebellar atrophy: A case for reversibility of neurological decline. [PDF]

Radiol Case Rep
Mogere E, Cheruiyot D, Nassiuma M.
europepmc   +1 more source

α‐Synuclein strain homogeneity in multiple system atrophy subtypes

Brain Pathology, EarlyView.
Two different subtypes of multiple system atrophy are recognized: MSA‐C and MSA‐P. In this manuscript, Lau et al. investigate whether MSA‐C and MSA‐P are caused by different strains of α‐synuclein aggregates. By performing conformational fingerprinting experiments as well as in vitro and in vivo seeding assays, their findings suggest that both MSA‐C ...
Heather H. C. Lau, Nicholas R. G. Silver, Surabhi Mehra, Raphaella W. L. So, Le yao Li, Alison Mao, Erica Stuart, Cian Schmitt‐Ulms, Bradley T. Hyman, Martin Ingelsson, Joel C. Watts   +10 more
wiley   +1 more source

Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1

Brain Pathology, EarlyView.
This is the first report of neuropathology in biallelic RFC1 expansion‐associated Parkinson’s disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features were absent.
Jussi Sipilä, Tuomas Rauramaa, Laura Kytövuori, Kari Majamaa   +3 more
wiley   +1 more source

Chronic traumatic encephalopathy in a neuropathologically confirmed Creutzfeldt–Jakob disease cohort

Brain Pathology, EarlyView.
Systematic neuropathological screening of 212 patients with Creutzfeldt–Jakob disease (55% women) identified chronic traumatic encephalopathy in three cases (1.4%), all men with a history of contact sports. These findings represent the first neuropathologically confirmed chronic traumatic encephalopathy cases reported in Spain.
Lluc Bertran, Iban Aldecoa, Arlène Sindikubwabo, Núria Vidal, Rafael Blesa, Mercè Martínez‐Corral, Carlos Nos, Verónica Santiago, Andrea González, Álex Iranzo, Christopher J. Nowinski, Ann C. McKee, Raquel Sánchez Valle, Laura Molina‐Porcel   +13 more
wiley   +1 more source

Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. [PDF]

Epilepsia
Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH.   +63 more
europepmc   +1 more source