Results 141 to 150 of about 3,916,297 (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

Rare locations of peripheral aneurysms in Marfan syndrome treated surgically: a case report

BMC Cardiovascular Disorders
Marfan syndrome (MFS) is a connective tissue disorder that can lead to cardiovascular and musculoskeletal abnormalities. Aortic aneurysms and dissections are frequently seen in patients with MFS whereas peripheral vascular aneurysms in subclavian and ...
Negar Ebrahimi, Ali Azari, Ossama Maadarani, Ali Heidari Bakavoli, Leila Bigdelu   +4 more
doaj   +1 more source

The Serum IL-6 Profile and Treg/Th17 Peripheral Cell Populations in Patients with Type 1 Diabetes [PDF]

, 2013
Monika Ryba‐Stanisławowska, Maria Skrzypkowska, Jolanta Myśliwska, Małgorzata Myśliwiec   +3 more
openalex   +1 more source

Screening of Potential Biomarkers in the Peripheral Serum for Steroid-Induced Osteonecrosis of the Femoral Head Based on WGCNA and Machine Learning Algorithms [PDF]

, 2022
Jian Zhang, Chi Huang, Zehan Liu, Shuai Ren, Zilong Shen, Kecheng Han, Weiguang Xin, Guanyi He, Jianyu Liu   +8 more
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 more
wiley   +1 more source

Experience-dependent flexibility in a molecularly diverse central-to-peripheral auditory feedback system

, 2023
Michelle M. Frank, Austen A. Sitko, Kirupa Suthakar, Lester Torres Cadenas, Mackenzie Hunt, M. Caroline Yuk, Catherine J.C. Weisz, Lisa V. Goodrich   +7 more
openalex   +1 more source

Peripheral blood mononuclear cells preferentially activate 11-oxygenated androgens [PDF]

, 2021
Lina Schiffer, Alicia Bossey, Punith Kempegowda, Angela E. Taylor, İldem Akerman, Dagmar Scheel‐Toellner, Karl‐Heinz Storbeck, Wiebke Arlt   +7 more
openalex   +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

Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients [PDF]

, 2022
Mirjam E. van de Velde, Aniek Uittenboogaard, Wenjian Yang, Erik Bonten, Cheng Cheng, Deqing Pei, M. van den Berg, Inge M. van der Sluis, Cor van den Bos, Floor Abbink, Marry M. van den Heuvel‐Eibrink, Heidi Segers, Christophe Chantrain, Jutte van der Werff ten Bosch, Leen Willems, William E. Evans, Gertjan J.L. Kaspers   +16 more
openalex   +1 more source