Results 211 to 220 of about 67,131 (272)

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

Observation of the Therapeutic Effect of Washed Microbiota Transplantation on Childhood Autism Spectrum Disorder. [PDF]

Actas Esp Psiquiatr
Li J, Liu J, Chen M, Wang Y, Zhou C.
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

Age-specific effects of hemoglobin A1c, blood pressure, and cholesterol levels on incident cardiovascular diseases among adults with diabetes in China: a 10-year prospective cohort study. [PDF]

Life Metab
Yin Y, Jia X, Wu S, Qiao H, Qin G, Wang T, Hu C, Lin H, Wang S, Xu Y, Li M, Xu M, Zheng J, He X, Qin Y, Tang X, Ye Z, Hu R, Shi L, Su Q, Yu X, Yan L, Wan Q, Chen G, Gao Z, Wang G, Shen F, Gu X, Luo Z, Chen L, Hou X, Huo Y, Li Q, Zhang Y, Zeng T, Liu C, Wang Y, Yang T, Deng H, Chen L, Zhao J, Mu Y, Ning G, Chen Y, Lu J, Wang W, Bi Y.   +46 more
europepmc   +1 more source

Daily‐Life, Sensor‐Derived Tremor Measures Are Sensitive to Progression in Early Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Sensitive outcome measures are critical for evaluating the efficacy of novel treatments for Parkinson's disease (PD). In this study, we assess the sensitivity to change of sensor‐derived daily‐life tremor measures over 2 years in unmedicated and medicated persons with early PD.
Nienke A. Timmermans, Ioan Gabriel Bucur, Diogo C. Soriano, Erik Post, Hayriye Cagnan, Sooyoon Shin, Max A. Little, Yordan P. Raykov, Bastiaan R. Bloem, Rick C. Helmich, Luc J.W. Evers   +10 more
wiley   +1 more source

The ATP Binding Cassette (ABC) Transporter Gene Family in Lotus (<i>Nelumbo</i> Adans.): Genome-Wide Survey, Characterization and Gene Expression Profile. [PDF]

Biology (Basel)
Zhao Y, Cui L, Liu Q, Huo J, Zhang H, Zhang D, Zhang H.   +6 more
europepmc   +1 more source

ABC of Response Process Validation and Face Validity Index Calculation

Education in Medicine Journal, 2019
openaire   +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

Predictive Value of the Combination of Lactate and qSOFA Score for Clinical Outcomes in Cirrhotic Patients with Esophagogastric Variceal Bleeding. [PDF]

Int J Gen Med
Li M, Geng N, Liu Z, Pan W, Lai C, Cui Y, Miao Y, Zhu Y, Yan B, Li H, Wang J, Liu B.   +11 more
europepmc   +1 more source

From Marginal to Central: Marginal Zone‐like B Cells as Critical Targets in Cladribine‐Treated Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) is a chronic autoimmune disease where B cells play a central pathogenic role. Cladribine, an oral therapy, provides durable benefits by reshaping lymphocyte populations, yet its specific long‐term impact on distinct B‐cell subsets is not fully understood.
Marta Pirronello, Mario Picozza, Gisella Guerrera, Silvia Corbisiero, Andrea Misiti, Roberta C. Placido, Alice Verdiani, Lorenzo de Marco, Manolo Sambucci, Elena Olivieri, Daniela F. Angelini, Esmeralda Quartuccio, Luca Prosperini, Carla Tortorella, Maria C. Buscarinu, Valeria Zancan, Francesca de Masi, Marco Salvetti, Claudio Gasperini, Giovanna Borsellino, Luca Battistini   +20 more
wiley   +1 more source