Results 241 to 250 of about 12,319,152 (351)

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

Curvilinear Sub-Resolution Assist Feature Placement Through a Data-Driven U-Net Model. [PDF]

Micromachines (Basel)
Liu J, He W, Ding W, Wang Y, Shen Y.
europepmc   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

JAXLEY: differentiable simulation enables large-scale training of detailed biophysical models of neural dynamics. [PDF]

Nat Methods
Deistler M, Kadhim KL, Pals M, Beck J, Huang Z, Gloeckler M, Lappalainen JK, Schröder C, Berens P, Gonçalves PJ, Macke JH.   +10 more
europepmc   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

A novel numerical investigation of fiber Bragg gratings with dispersive reflectivity having polynomial law of nonlinearity. [PDF]

Sci Rep
Tariq H, Iftikhar M, Qiao W, Javed F, Pamucar D, Ashebo MA, Shrahili M.   +6 more
europepmc   +1 more source

FIGURE 5 from Dabrafenib Alters MDSC Differentiation and Function by Activation of GCN2

M. Teresa Ciudad, Rene Quevedo, Sara Lamorte, Robbie Jin, Nadine Nzirorera, Marianne Koritzinsky, Tracy L. McGaha   +6 more
openalex   +1 more source

Expression and functions of long noncoding RNAs during human T helper cell differentiation [PDF]

, 2015
Charles F. Spurlock, John T. Tossberg, Yan Guo, Sarah P. Collier, Philip S. Crooke, Thomas M. Aune   +5 more
openalex   +1 more source

Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan, Meeta Yadav, Sudeep Ghimire, Peter C. Lehman, Apurva J. Patel, Sydney Woods, Heena Olalde, Jemmie Hoang, Mishelle Paullus, Catherine Cherwin, Christine Gill, Tracey Cho, Ashutosh K. Mangalam   +12 more
wiley   +1 more source

Uncertainty-aware Fourier ptychography. [PDF]

Light Sci Appl
Chen N, Wu Y, Tan C, Cao L, Wang J, Lam EY.   +5 more
europepmc   +1 more source