Results 131 to 140 of about 41,376 (286)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, Volume 100, Issue 3, Page 655-671, September 2026.
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

Rhumatisme noueux / Charcot, Jean Martin

Manuscrit, 498 feuillets (Fonds Charcot : Manuscrits des leçons de J.M.Charcot.
Charcot, Jean Martin
core  

Moth‐Eaten Osteolysis of Multiple Foot Bones After a Conservatively Treated “Stable” Ankle Fracture: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Progressive multifocal “moth‐eaten” osteolysis involving foot and ankle bones after nonoperative treatment of a stable ankle fracture is rare and warrants evaluation for infectious, neoplastic, inflammatory, vascular, and mechanical causes.
Haotian Wu, Xue Yang, Yao Zhou, Zihan Chen, Liqing Yao   +4 more
wiley   +1 more source

Maladies des vieillards, Goutte et rhumatisme, tome VII / Charcot, Jean Martin

, 1890
XXXIII, 615 p., 4 feuilles de planches: ill.; 24 cm (8 v.) (Fonds Charcot : Leçons de Charcot.
Charcot, Jean Martin
core  

Recent Advancements in Drug Delivery Across the Blood–Brain Barrier in Amyotrophic Lateral Sclerosis (ALS)

CNS Neuroscience &Therapeutics, Volume 32, Issue 9, September 2026.
Progressive BBB/BSCB dysfunction is increasingly recognized as both a pathological feature and a therapeutic barrier in ALS. Novel delivery technologies and barrier‐restoration strategies may enhance CNS drug exposure, improve the efficacy of disease‐modifying therapies, and advance ALS treatment. ABSTRACT Background Amyotrophic lateral sclerosis (ALS)
Nitesh Sanghai, Kaitlyn Pierce, Nidhi Sharma, Sasha Leggett, Tara Chand Yadav, Pegah Masrori, Devi Atukorallaya, Senthilnathan Palaniyandi, Paul C. Marcogliese, Geoffrey K. Tranmer   +9 more
wiley   +1 more source

Leçons sur la goutte / Charcot, Jean Martin

Manuscrit, 373 feuillets (Fonds Charcot : Manuscrits des leçons de J.M.Charcot.
Charcot, Jean Martin
core  

Reins Leçons 1880: 1à 10 / Charcot, Jean Martin

, 1880
Manuscrit, (Fonds Charcot : Manuscrits des leçons de J.M.Charcot.
Charcot, Jean Martin
core  

Poumons. Bronches. Plèvres / Charcot, Jean Martin

Manuscrit, (Fonds Charcot : Manuscrits des leçons de J.M.Charcot.
Charcot, Jean Martin
core  

Charcot and aphasia: contributions of his assistants [PDF]

, 2016
The ideas and concepts regarding language and its disorders have a longstanding history. However, it was possible to consider the 19th century as the period when the main milestones on the subject begun to be settled, with Paul Broca\u27s and Carl ...
Engelhardt, Eliasz, Gomes, Marleide da Mota   +1 more
core  

Long‐Term Mortality in Diabetic Foot Disease is Higher Than That of Overall Cancer: Results From Three International Cohorts

Diabetes/Metabolism Research and Reviews, Volume 42, Issue 6, September 2026.
ABSTRACT Background Guidelines suggest that the risk of mortality in diabetic foot disease (DFD) is comparable to that of cancer; however, high‐quality evidence is lacking. We aimed to compare the mortality of DFD with that of various cancers based on data from international cohorts.
Qinglian Zeng, Ziwei Tang, Xiangjun Chen, Linlin Zhan, Victoria Balasubramanian, Zhihao Chen, Manman Du, Qi Zhang, Fei Lian, Xiaoru Zhang, Qing Liang, Wenrui Zhao, Xun Li, Mengyao Zhang, Qifu Li, Shumin Yang, Jinbo Hu, Qingfeng Cheng, Hang Shen   +18 more
wiley   +1 more source