Results 231 to 240 of about 186,958 (312)

Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration. [PDF]

Clin Case Rep
Wang C.
europepmc   +1 more source

Ataxias in Brazil

Arquivos de Neuro-Psiquiatria
openaire   +4 more sources

Homozygous PNPLA6 Mutation (p.Arg1183Trp) Associated With Isolated Cerebellar Ataxia: A Familial Case Report. [PDF]

Cureus
Alawadhi A, Almarzooqi A, Khan M, Alrukn S.   +3 more
europepmc   +1 more source

A case report: Diagnosis and treatment of idiopathic hypertrophic pachymeningitis

Ibrain, Volume 11, Issue 1, Page 112-116, Spring 2025.
We reported a case of idiopathic hypertrophic dura meningitis diagnosed in our hospital. The patient repeatedly suffered from headaches, followed by blurred vision in the right eye. During this period, multiple sclerosis was considered for diagnosis, and it improved after hormone treatment.
Zhong Luo, Piao Cao, Jing‐Qing Xu, Rong Yan, Jian Wang, Tao Liang, Ya Chen, Zu‐Cai Xu   +7 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS. [PDF]

J Neurol
Pellerin D, Heindl F, Traschütz A, Iruzubieta P, Dicaire MJ, Zuchner S, Hartmann AM, Rujescu D, Houlden H, Brais B, Strupp M, Synofzik M.   +11 more
europepmc   +1 more source

Tumor‐Regional Immune Microenvironment: A Critical Factor in the Design of Radiotherapy–Immunotherapy Combination Trials

International Journal of Cancer, EarlyView.
ABSTRACT Clinical trials combining radiotherapy (RT) with immune checkpoint blockade (ICB) have shown improved outcomes in only a fraction of patients, and optimal strategies for integrating these modalities remain under intense investigation. With a few exceptions, phase III combination trials have yielded disappointing results.
Xuanwei Zhang, Hui Wang, Weiyan Tang, Kai Kang, Kateryna Onyshchenko, Taotao Huang, Dan Liu, Jianxin Xue, You Lu, Gabriele Niedermann, Ren Luo   +10 more
wiley   +1 more source

Pancreatic Cancer Early Detection Biomarkers for High‐Risk Individuals: Insights From the PRECEDE Consortium

International Journal of Cancer, EarlyView.
ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers due to its asymptomatic progression, late‐stage diagnosis, and treatment resistance. Efforts in early detection have centered on identifying imaging features and liquid biopsy biomarkers capable of detecting PDAC and its high‐grade precursors before clinical symptoms ...
Christine Worthington, Maria Raitses‐Gurevich, Giulio Innamorati, Phil A. Hart, Thomas M. Wilkie, Noam Tau, Dana Brin, Doron Yablecovitch, Ido Laish, Dove Keith, Kurt Giles, Jennifer B. Permuth, Diane M. Simeone, George Zogopoulos, Randall E. Brand, John J. Graff, Julie Earl, On behalf of the PRECEDE Consortium, Nikhil Agarwal, Laufey Amundadottir, Michelle Anderson, Ajay Bansal, Todd Bauer, Georg Beyer, Yan Bi, Erkut Borazanci, Randy Brand, Teri Brentnall, Carol Burke, Darren Carpizo, Saurabh Chawla, Daniel Chung, Sourat Darabi, Michael Demeure, Timothy Donahue, Julie Earl, Whitney Espinel, James Farrell, Vigdís Fjóla Stefánsdóttir, Jared Forrester, Eitan Friedman, Paul Franklin, Srinivas Gaddam, Ana García García de Paredes, Steven Gallinger, Talia Golan, Ora Gordon, Robert Grant, William Greenhalf, Eli Marie Grindedal, Aaron Grossberg, Brenda Hafers, Heather Hannon, Sigurdís Haraldsdóttir, Stefán Haraldsson, Peter Hegyi, Melissa Hogg, Amy de Haar‐Holleman, Susan Hong, Greg Idos, Edward Kim, Fay Kastrinos, Bryson Katona, Vivek Kaul, Derk Klatte, Kelsey Klute, Kimberly Ku, Sonia Kupfer, Rich Kwon, Rosario Ligresti, James James Lin, Wei‐Chih (David) Liao, Aimee Lucas, Nipun Merchant, Andrew Metz, Whitney Maxwell, James McLoughlin, Sodech Miclette, Xavier Molero, Leticia Moreira, Takuji Okusaka Chigusa Morizane, Joanne Ngeow, Salvatore Paiella, Jennifer Permuth, Maricel Purcell, Joshua Raff, Vineet Rolston, Intan Schrader, Rosie Sears, Yan‐Shen Shan, Diane Simeone, Jens Siveke, Brett Sheppard, Tyler Stevens, Elena Stoffel, Dan Sussman, Margaret Tempero, Jose Trevino, Jennifer Valerin, Eva Vaquero, Ray Wadlow, Garrett Ward, David Weinberg, Ronald Wolf, Dana Zakalik, George Zogopoulos   +105 more
wiley   +1 more source

Safety and efficacy of individualised exercise and NAD⁺ precursor supplementation in patients with Friedreich's ataxia in the USA: a single-centre, 2 × 2 factorial, randomised controlled trial. [PDF]

Lancet Neurol
Lin KY, Bucha A, McSweeney K, Wade KL, Karaj A, Tamaroff J, O'Malley S, Chung NM, Cilenti NA, Wanner J, Adzika GK, Mesaros C, Blair IA, Rojsajjakul T, Serai S, Farmer J, Bryant K, Lu Y, Harhay MO, Weber DR, Paridon SM, Seifert EL, Putt ME, Zamani P, Baur JA, Lynch DR, McCormack SE.   +26 more
europepmc   +1 more source

Anti‐NMDA receptor autoimmune encephalitis associated with ovarian teratoma: A case series and literature review

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 23-30, April 2025.
Abstract Autoimmune encephalitis is a group of disorders characterized by symptoms of dysfunction of the limbic and extra‐limbic systems that occur in association with antibodies against intracellular antigens, synapses, or proteins located on the surface of nerve cells. Anti‐NMDA (N‐methyl‐D‐aspartate) receptor encephalitis was first described in 2007
Pham Ba Nha, Nguyen Phuong Tu, Nguyen Viet Ha, Duong Thi Thu Hien, Nguyen Thi Thu Phuong, Nguyen Anh Son, Nguyen Tien Hoang   +6 more
wiley   +1 more source