Results 101 to 110 of about 1,988,517 (312)

Central vein sign differentiates Multiple Sclerosis from central nervous system inflammatory vasculopathies [PDF]

, 2018
Pietro Maggi, Martina Absinta, Matteo Grammatico, Luisa Vuolo, Giacomo Emmi, Giovanna Carlucci, Gregorio Spagni, Alessandro Barilaro, Anna Maria Repice, Lorenzo Emmi, Domenico Prisco, Vittorio Martinelli, Roberta Scotti, Niloufar Sadeghi, Gaetano Perrotta, Pascal Sati, Bernard Dachy, Daniel S. Reich, Massimo Filippi, Luca Massacesi   +19 more
openalex   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

DNA damage-induced cell death: lessons from the central nervous system [PDF]

, 2007
Helena L. Borges, Rafael Linden, Jean Y. J. Wang   +2 more
openalex   +1 more source

Quantity and Volume of Perivascular Spaces Are Inversely Associated With Multiple Sclerosis Relative to Cerebrovascular Disease and Migraine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify the number and volume of whole brain perivascular spaces (PVS) using a detection and segmentation algorithm in participants with multiple sclerosis (MS) and patients with disorders mimicking MS known to potentially influence PVS, such as cerebrovascular disease.
Elle M. Levit, Elizabeth A. Horwath, Daniel L. Schwartz, Lisa C. Silbert, Russell T. Shinohara, Andrew J. Solomon   +5 more
wiley   +1 more source

Incidence and risk of central nervous system metastases as site of first recurrence in patients with HER2-positive breast cancer treated with adjuvant trastuzumab [PDF]

, 2013
Erik M. Olson, Mahmoud Abdel‐Rasoul, J Malý, Christina Wu, Nancy U. Lin, Charles L. Shapiro   +5 more
openalex   +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

Solitary plasmacytoma of spine with amyloidosis

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To report the diagnosis and treatment of one case of solitary plasmacytoma of spine with amyloidosis and investigate the clinicopathological features combined with literatures. Methods and Results The patient was a 46-year-old woman.
Cui-yun SUN, Shi-zhu YU
doaj  

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca   +7 more
wiley   +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

ZNRF2 is essential for gliomagenesis through orchestrating glycolysis and acts as a promising therapeutic target in glioma

Journal of Translational Medicine
Background Improving glioma treatment effectiveness requires a thorough understanding of gliomagenesis. Emerging evidences have proved that zinc and ring finger 2 (ZNRF2) contributes to development of various human malignancies.
Yunlan Xi, Qingqing Yang, Yixuan Wang, Wenzhe An, Xuewei Huang, Cuiyun Sun, Wenjun Luo, Cuijuan Shi, Qian Wang, Hongli Pan, Qiang Chen, Xuebing Li, Dan Hua, Shizhu Yu, Xuexia Zhou   +14 more
doaj   +1 more source