Results 261 to 270 of about 631,661 (355)

Nerve Excitability in Asymptomatic Carriers and Amyotrophic Lateral Sclerosis Patients With C9orf72

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients. Methods We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9 ...
Diederik J. L. Stikvoort García, H. Stephan Goedee, Leonard H. van den Berg, Boudewijn T. H. M. Sleutjes   +3 more
wiley   +1 more source

Construction and validation of a lactylation-based gene signature for prognostic assessment and immune infiltration analysis in gastric adenocarcinoma. [PDF]

BMC Med Genomics
Zeng Y, Zhuang G, Xie W, Guo S, Wu S, Chen J.   +5 more
europepmc   +1 more source

Moyamoya Disease and the Risk of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing of arteries at the base of the brain, forming abnormal collateral vascular networks. While vascular parkinsonism is noted in MMD, its link to Parkinson's disease (PD) has not been explored.
Dallah Yoo, Jeong‐Yong Shin, Rugyeom Lee, Jiwon Cheon, Ji Hun Kim, Doeun Kim, Jae‐Kyung Won, In‐Hwan Oh, Yunjong Lee, Tae‐Beom Ahn   +9 more
wiley   +1 more source

An efficient epithelial-mesenchymal transition-related gene signature for predicting the survival of patients with lung adenocarcinoma. [PDF]

Transl Cancer Res
Han P, Guda C, Liu Q.
europepmc   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Integrating Single-Cell Transcriptomics and Machine Learning to Define an ac4C Gene Signature in Lung Adenocarcinoma. [PDF]

Thorac Cancer
Wang Y, Su W, Zhou G, Wang Y, Wu C, Zhang P, Zhang L.   +6 more
europepmc   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Development of a recurrence-related gene signature and functional role of MLLT6 in ovarian cancer progression and Paclitaxel resistance. [PDF]

J Ovarian Res
Bao Q, Wang S, Hong L.
europepmc   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

A mitochondrial ferroptosis-related gene signature predicts prognosis and immune landscape in colon cancer. [PDF]

Front Med (Lausanne)
Wang H.
europepmc   +1 more source