Results 111 to 120 of about 3,497,460 (348)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management

Dermatology Reports
Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many
Alvise Montanari, Francesca Caroppo, Antonio Amabile, Anna Fortina Belloni, Franco Bassetto   +4 more
doaj   +1 more source

Vitamin B6 and Skin Lesions in Rats [PDF]

, 1939
PAUL GYÜRGY, Robert E. Eckardt
openalex   +1 more source

Hygienics of the Skin [PDF]

The Boston Medical and Surgical Journal, 1899
n ...
openaire   +3 more sources

The Comparative Effectiveness and Tolerability of Sphingosine‐1‐Phosphate Receptor Modulators in Patients With Multiple Sclerosis: A Network Meta‐Analysis of Randomized Controlled Trials

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Sphingosine‐1‐phosphate receptor modulators (S1PRM) are used to treat relapsing multiple sclerosis (MS). Each drug has a different S1PR‐subtype selectivity. They target the G‐protein coupled S1P receptors and exert significant immunomodulatory effects, such as preventing the formation of new CNS lesions and the reactivation of pre ...
Faizan Shahzad, Taimoon Rasheed, Momina Riaz Siddiqui, Hamza Hamid, Marwah Bintay Khalid, Haroon Shabbir, Besher Shami, Abdullah, Syed Ijlal Ahmed   +8 more
wiley   +1 more source

Identification of vagus nerve stimulation parameters affecting rat hippocampal electrophysiology without temperature effects

Brain Stimulation, 2020
Background: Recent experiments in rats have demonstrated significant effects of VNS on hippocampal excitability but were partially attributed to hypothermia, induced by the applied VNS parameters.
Wouter Van Lysebettens, Kristl Vonck, Lars Emil Larsen, Latoya Stevens, Charlotte Bouckaert, Charlotte Germonpré, Mathieu Sprengers, Evelien Carrette, Jean Delbeke, Wytse Jan Wadman, Paul Boon, Robrecht Raedt   +11 more
doaj  

Diseases of the Skin

Southern Medical Journal, 1921
First ed. pub. in 1915 under title: A practical treatise on diseases of the skin. ; Mode of access: Internet.
Ormsby, Oliver S. (Oliver Samuel), 1874-1954., Montgomery, Hamilton, 1897-   +1 more
openaire   +2 more sources

Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia, Alex Incensi, Cecilia Delprete, Giovanni Rizzo, Salvatore Bonvegna, Marco Piatti, Enrica Olivola, Francesco Ventruto, Veria Vacchiano, Enrico Fileccia, Roberto Cilia, Nicola Modugno, Rocco Liguori, Vincenzo Donadio   +13 more
wiley   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +1 more source