Results 171 to 180 of about 103,162 (311)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Impact of Bone Graft Type on Spinal Fusion Outcomes in Adolescent Idiopathic Scoliosis: Updated Meta-Analysis. [PDF]

J Bone Metab
Joung E, Park KT, Kang N, Park S, Kim NY, Roh YH, Yoon BH.   +6 more
europepmc   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

THE POST-OPERATIVE ANALGESIC EFFECTIVENESS OF A NEFOPAM AND FENTANYL MIXTURE IN PATIENTS UNDERGOING SPINAL FUSION SURGERY

, 2023
Duy Anh Nguyễn, Hoai-Nam Tran, Ngoc Thach Nguyen, Van Khuong Tran, The Nam Trinh, Anh Dung Vu   +5 more
openalex   +2 more sources

Hub genes and diagnostic model associated with mitochondrial function in Alzheimer's disease

Animal Models and Experimental Medicine, EarlyView.
Alzheimer's disease (AD) is the most common neurodegenerative disorder, and mitochondrial dysfunction has been confirmed in AD patients and mouse models. However, the pathogenic genes associated with AD and early diagnostic methods based on mitochondrial function remain to be explored.
Xuchao Zhu, Ling Zhang, Chuan Qin
wiley   +1 more source

Comparing the efficacy of teriparatide and bisphosphonates in osteoporotic patients undergoing thoracolumbar spinal fusion: a meta-analysis. [PDF]

Front Surg
Ji X, Duan J, He G, Wang J, Xing Z.
europepmc   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

Annals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar1, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +7 more
wiley   +1 more source

Is L5/S1 interbody fusion necessary with concurrent iliac fixation for long segment spinal fusion constructs?-a systematic review of biomechanical studies. [PDF]

J Spine Surg
Schupper AJ, Tawil M, Kim HJ, Hecht AC, Steinberger JM, Lin JD.   +5 more
europepmc   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

Angewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu, Yufan Zhang, Hanwen Yu, Da Wang, Xinyue Zhang, Xiaowen Du, Shanshan Wu, Bingzhi Li, Yizhou Zhang, Hongliang Xin, Xing Guo, Yan Liu   +11 more
wiley   +2 more sources