Results 231 to 240 of about 554,004 (364)

Sex Hormones Determine Immune Response

Frontiers in Immunology, 2018
Veena Taneja
doaj   +1 more source

X-Linked Intellectual Developmental Disorder-93 Caused by BRWD3 Mutation in Females: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Xiu Y, Zhang Y, Jiao Y, Wang W, Hu Y.
europepmc   +1 more source

A non‐ancestral RPGR missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa

American Journal of Medical Genetics. Part A, 2007
E. Banin, L. Mizrahi‐Meissonnier, R. Neis, S. Silverstein, I. Magyar, D. Abeliovich, R. Roepman, W. Berger, T. Rosenberg, D. Sharon   +9 more
semanticscholar   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region. [PDF]

Clin Med Insights Endocrinol Diabetes
Seefried L, Al Badi M, Frookh H, Al-Sagheir A, Fiad TM, Deeb A, Al Sumaily A, Attia N, Habeb A, Alzahrani A, Mughal MZ.   +10 more
europepmc   +1 more source

Targeted molecular strategies for X-linked genetic disorders: the paradigmatic models of Fabry disease and Haemophilias

, 2020
Il trattamento delle malattie genetiche, pur avendo notevolmente migliorato la qualità di vita dei pazienti, presenta spesso limiti dovuti, ad esempio, all'inaccessibilità del tessuto da trattare, alla breve emivita del farmaco, o alla difficoltà nel veicolare transgeni di grandi dimensioni.
openaire   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Case Report: Invasive pulmonary aspergillosis caused by <i>Aspergillus lentulus</i> in a boy with chronic granulomatous disease. [PDF]

Front Med (Lausanne)
Tan S, Liao Q, Wen Y, Zhu Y.
europepmc   +1 more source