Results 111 to 120 of about 24,153,656 (297)

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

Acute tryptophan depletion – a translational research method for studying the impact of central nervous system serotonin function [PDF]

, 2013
Florian Daniel Zepf
openalex   +1 more source

Central nervous system regeneration

Cell, 2022
Supraja G. Varadarajan, John L. Hunyara, Natalie R. Hamilton, A. Kolodkin, A. Huberman   +4 more
semanticscholar   +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

The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary

Acta Neuropathologica, 2016
D. Louis, A. Perry, G. Reifenberger, A. Deimling, D. Figarella-Branger, W. Cavenee, H. Ohgaki, O. Wiestler, P. Kleihues, D. Ellison   +9 more
semanticscholar   +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

Leveraging the dynamic blood–brain barrier for central nervous system nanoparticle-based drug delivery applications

, 2020
Connor Copeland, Sarah E. Stabenfeldt
openalex   +2 more sources

Central Nervous System Melanocytic Neoplasm [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Olfactory transmucosal SARS-CoV-2 invasion as a port of central nervous system entry in individuals with COVID-19

Nature Neuroscience, 2020
J. Meinhardt, Josefine Radke, Carsten Dittmayer, J. Franz, C. Thomas, R. Mothes, M. Laue, J. Schneider, Sebastian Brünink, Selina Greuel, Malte Lehmann, Olga Hassan, T. Aschman, E. Schumann, R. Chua, C. Conrad, R. Eils, W. Stenzel, M. Windgassen, L. Rößler, H. Goebel, H. Gelderblom, H. Martin, A. Nitsche, W. Schulz-Schaeffer, S. Hakroush, M. Winkler, Björn Tampe, F. Scheibe, Péter Körtvélyessy, D. Reinhold, B. Siegmund, A. Kühl, S. Elezkurtaj, D. Horst, L. Oesterhelweg, M. Tsokos, B. Ingold‐Heppner, C. Stadelmann, C. Drosten, V. Corman, H. Radbruch, F. Heppner   +42 more
semanticscholar   +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