Results 61 to 70 of about 561,973 (252)

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature

Journal of Medical Case Reports, 2008
Introduction Cystinosis is a hereditary storage disease resulting in intracellular accumulation of cystine and crystal formation that causes deterioration of the function of many organs.
Müller Marcus, Baumeier Andrea, Ringelstein EB, Husstedt IW   +3 more
doaj   +1 more source

Rescuing Mitochondrial Dysfunction in Macrophages Prevents Osteonecrosis of the Jaw in Anti‐Resorptive Therapy

Advanced Science, EarlyView.
Schematic model showing the suggested mechanism that ZA induces classical activation of macrophages by impairing mitochondrial biofunction and inhibiting mitochondrial clearance to contribute to the pathological process of BRONJ. RAPA‐loaded nanoparticles ZDPR has shown potential in alleviating BRONJ lesions as well as treating osteoporosis or ...
Hang Zhang, Xin Shen, Haiyang Liu, Xinxi Yuan, Mumin Cao, Xuepeng Lv, Ziji Ling, Songsong Guo, Rongyao Xu, Xiang Li, Hongbing Jiang   +10 more
wiley   +1 more source

A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation

Case Reports in Neurology, 2014
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene.
Jantima Tanboon, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi   +5 more
doaj   +1 more source

Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]

, 2016
Peer ...
Hackman, Peter, Sarparanta, Jaakko, Savarese, Marco, Udd, Bjarne, Vihola, Anna   +4 more
core   +2 more sources

PROTAC‑Mediated HMGCR Depletion Reprograms Lipid Metabolism in Breast Cancer to Potentiate Photoimmunotherapy via Ferroptosis

Advanced Science, EarlyView.
This work introduces a study that identifies HMGCR as a novel target in TNBC and develops a light‐gated PROTAC nanomedicine. Upon irradiation, this agent selectively degrades HMGCR, reprogramming lipid metabolism to induce ferroptosis and potent antitumor immunity, thereby significantly enhancing photoimmunotherapy efficacy.
Tong Su, Guang Li, Yudong Guan, Qi Tian, Youzhi Qi, Yanqiu Zhang, Wenqian Wei, Xinxin Duan, Jiaxin Rui, Hongyan Zhu, Zengping Lin, Changchuan Xie, Zheni Xu, Yaying Wu, Xin Peng, Zhenjie Wang, Kun Chen, Xiaoyan Xin, Bing Zhang   +18 more
wiley   +1 more source

GNE myopathy (Nonaka myopathy)

Анналы клинической и экспериментальной неврологии, 2019
GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya, Alena L. Chukhrova, Oksana P. Ryzhkova   +2 more
doaj   +1 more source

Engineering Immune Cell to Counteract Aging and Aging‐Associated Diseases

Advanced Science, EarlyView.
This review highlights a paradigm shift in which advanced immune cell therapies, initially developed for cancer, are now being harnessed to combat aging. By engineering immune cells to selectively clear senescent cells and remodel pro‐inflammatory tissue microenvironments, these strategies offer a novel and powerful approach to delay age‐related ...
Jianhua Guo, Lanjie Lei, Ying Jin, Lan Su, Shumao Cui, Liyun Shi   +5 more
wiley   +1 more source

Miopatia por corpos esferóides: relato de caso Spheroid body myopathy: case report

Arquivos de Neuro-Psiquiatria, 2005
A miopatia por corpos esferóides é doença rara, classificada no grupo das miopatias congênitas relacionadas aos distúrbios da desmina; apresenta, em geral, origem autossômica dominante e com início dos sintomas na fase adulta.
Rosana Hermínia Scola, Alcides Trentin Jr, Rodrigo Vaez, Vinicius de Faria Gignon, Thaís Gurgel Costa, Lineu Cesar Werneck   +5 more
doaj   +1 more source

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases. [PDF]

, 2017
This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS).
Bolitho, Samuel J, Gonzales, Hilary, Hagerman, Paul J, Hagerman, Randi J, Hah, Mina, Hunsaker, Michael Ryan, Joffe, Ronald, Lechpammer, Mirna, Martínez Cerdeńo, Verónica, Pamphlett, Roger, Tassone, Flora, Tisch, Steve   +11 more
core   +2 more sources