Results 191 to 200 of about 468,715 (308)

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

White matter microstructural alterations in episodic cluster headache outside attacks: a tract-based spatial statistics study. [PDF]

J Headache Pain
Caramia F, Di Renzo A, Giuliani G, Chiffi D, Di Lorenzo C, Colangelo A, De Maio A, Della Volpe L, Fiorelli M, Di Stefano G, Altieri M, Coppola G.   +11 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

Prevalence and associated factors of postdural puncture headache in cesarean section patients following spinal anesthesia in a public hospital in Harar, Eastern Ethiopia. [PDF]

PLOS Glob Public Health
Tilaye G, Tesfaye A, Getiye A, Shegene B, Chalie M, Tolera A.   +5 more
europepmc   +1 more source

Cerebrospinal Fluid from Restless Legs Syndrome Patients Reduces Iron Uptake in Blood–Brain Barrier Endothelial Cells by Disrupting the Regulation of Transferrin Receptors

Annals of Neurology, EarlyView.
Model figure of BBBECs TfR1 regulation in control and RLS: Graphical representation of TfR1 regulation in ECs by IRPs and representing it can be dysregulated by miR‐124‐3p in ECs of RLS. FPN1, ferroportin; BBBEC, blood‐brain barrier endothelial cells; IRP, iron regulatory proytein1/2; TfR1, Transferrin receptor; IRE, Iron responsive elements; Tf ...
Kondaiah Palsa, Aurosman Pappus Sahu, David B. Rye, Lynn Marie Trotti, Irina A. Elcheva, Vladimir S. Spiegelman, James R. Connor   +6 more
wiley   +1 more source

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef, Rodolfo G. Gatto, Nikhil B. Ghayal, Virginia Estades Ayuso, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Mei Yue, Casey N. Cook, Michael DeTure, Bailey D. Rawlinson, Monica Castanedes‐Casey, Clifford R. Jack Jr, Ronald C. Petersen, Dennis W. Dickson, Leonard Petrucelli, Jennifer L. Whitwell, Mercedes Prudencio, Keith A. Josephs   +18 more
wiley   +1 more source

Building bridges in migraine management: consensus pathways on best practices across primary and specialist care in Italy. [PDF]

Neurol Sci
Barbanti P, Tassorelli C, Vernieri F, De Cesaris F, De Icco R, Di Lorenzo C, Finocchi C, Grazzi L, Guerzoni S, Mampreso E, Mastronuzzi T, Messina R, Ornello R, Rao R, Taddeo D, De Tommaso M, Rainero I.   +16 more
europepmc   +1 more source

Alzheimer's Disease Co‐Pathology and Cognitive Impairment in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objectives Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) share neuropathological features, including tau, amyloid, and TDP‐43 pathology. This study investigated whether AD‐related pathological changes are associated with cognitive impairment ALS. Methods Cerebrospinal fluid (CSF total‐tau, phosphorylated‐tau, beta‐amyloid) and plasma
Elisabeth Kasper, Annaliis Lehto, Alexandra Jürs, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Voigt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Annett Halle, Jochen Herms, Anja Schneider, Stefan Teipel, Johannes Prudlo, Manuela Neumann, Andreas Hermann   +29 more
wiley   +1 more source

Pituitary tumor simulating cluster headache

PITUITARY TUMOR SIMULATING CLUSTER HEADACHE INTRODUCTION: Pituitary tumors are neoplasms that arise in the pituitary gland, a critical structure for the regulation of the body’s hormonal functions.
Romano, Danielle Cortellazzi Colonna, Pereira da Silva Filho, Amauri, Reis, Taianara Sampaio, Nakamura, Gabriela Yumi, Filho, Amauri Pereira da Silva, Freitas, Melissa Fernandes Vilela de, Karpejany, Natália Rebeca Alves de Araújo, Batista, Sabrina Borges   +7 more
core  

Auditory Stimulation of Slow‐Wave Sleep Promotes Recovery after Brain Injury in an Animal Model

Annals of Neurology, EarlyView.
Objective Traumatic brain injury (TBI) significantly reduces the quality of life for millions of survivors worldwide, causing persistent brain tissue damage and cognitive impairments, with no established therapeutic interventions currently available.
Carlos G. Moreira, Adrian Müllner, Meltem Gönel, Pascal Hofmann, Filipe Teixeira, Rosa C. Paolicelli, Inês Dias, Sergio I. Nemirovsky, Christian R. Baumann, Daniela Noain   +9 more
wiley   +1 more source