Results 81 to 90 of about 5,466 (214)

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Atlantoaxial Synovial Cyst Associated with Instability in a Chihuahua

Case Reports in Veterinary Medicine, 2012
Objective. To describe an atlantoaxial degenerative cyst associated with instability. Animal. Chihuahua, male, 5 years old. Methods. Ever since colliding with a large dog two years prior to presentation, the dog suffered recurrent episodes of intractable
Franck Forterre, Núria Vizcaino Reves, Christina Stahl, Stephan Rupp, Karine Gendron   +4 more
doaj   +1 more source

Reviewing the possible connection between cerebral amyloid angiopathy and blood–brain barrier integrity in Down syndrome

Alzheimer's &Dementia, Volume 21, Issue 10, October 2025.
Abstract Individuals with Down syndrome (DS) have a higher risk of developing cerebral amyloid angiopathy (CAA), primarily because of the excessive production of amyloid beta (Aβ). However, the consequences of CAA on blood–brain barrier (BBB) integrity and the neurovascular unit (NVU) are still not well understood.
Louis Valay, Marie‐Claude Potier
wiley   +1 more source

Transarticular screw fixation for atlantoaxial instability - modified Magerl's technique in 38 patients

Journal of Orthopaedic Surgery and Research, 2010
Background Symptomatic atlantoaxial instability needs stabilization of the atlantoaxial joint. Among the various techniques described in literature for the fixation of atlantoaxial joint, Magerl's technique of transarticular screw fixation remains the ...
Dhatt Saravdeep S, Goyal Tarun, Bahadur Raj, Tripathy Sujit K   +3 more
doaj   +1 more source

'Clinical triad' findings in pediatric Klippel-Feil patients [PDF]

, 2016
published_or_final_versio
A Feil, AD Elster, C Helmi, CH Gunderson, D Samartzis, D Samartzis, D Samartzis, D Samartzis, D Samartzis, D Samartzis, D Samartzis, D Samartzis, D Samartzis, D Samartzis, D Samartzis, EO Silva Da, FH Shen, HH Sherk, JD Auerbach, JE Hall, JF Ritterbusch, JL Ulmer, JT Guille, M Brown, M Klippel, M Naguib, MF Kerckhoven Van, MG Nagib, MG Nagib, MK Morgan, MN Thomsen, P Rouvreau, PA Gyorup, PD Pizzutillo, RA Clarke, RA Clarke, RB Winter, RC Juberg, RN Hensinger, S Vaidyanathan, SM Theiss, SW Gray, VD Nguyen, WB Moore   +43 more
core   +1 more source

AOSpine—Spine Trauma Classification System: The Value of Modifiers: A Narrative Review With Commentary on Evolving Descriptive Principles [PDF]

, 2019
Study Design: Narrative review. Objectives: To describe the current AOSpine Trauma Classification system for spinal trauma and highlight the value of patient-specific modifiers for facilitating communication and nuances in treatment.
Benneker, MD, Lorin M., Chapman, MD, Jens R., Divi, MD, Srikanth N., Dvorak, MD, Marcel F., Kandziora, MD, PhD, Frank, Oner, MD, PhD, Cumhur, Schnake, MD, Klaus J., Schroeder, MD, Gregory D., Vaccaro, MD, PhD, MBA, Alex R.   +8 more
core   +2 more sources

Design of a Novel Artificial Atlanto‐Odontoid Joint and Its Anatomical and Radiological Studies Following Transoral Pharyngeal Approach Arthroplasty

Orthopaedic Surgery, Volume 17, Issue 9, Page 2670-2679, September 2025.
The implantation of the novel artificial atlanto‐odontoid joint (AAOJ) is both safe and convenient, and it preserves the normal range of rotational, flexion‐extension, and lateral bending motion between the atlas and axis. ABSTRACT Objective For atlantoaxial joint disorders, traditional surgical approaches often presented challenges such as significant
Shengguang Lei, Lingyong Jing, Xijiong Chen, Zhiwei Gan, Jianbin Zhong, Liming Yu, Yong Hu   +6 more
wiley   +1 more source

Biomechanical study of the atlantoaxial joint after artificial atlanto-odontoid joint arthroplasty.

Chinese journal of traumatology = Zhonghua chuang shang za zhi, 2012
To investigate the stability and three-dimensional movements of the atlantoaxial joint after artificial atlanto-odontoid joint (AAOJ) arthroplasty by comparing with a conventional method.After anterior decompression, 24 human cadaveric spinal specimens of C0-C3 were randomly divided into two groups: Group A receiving artificial AAOJ arthroplasty; Group
HU Yong, GU Yong-jie, YUAN Zhen-shan, HE Xian-feng, DONG wei-xin, ZHAO Wei-dong   +5 more
openaire   +3 more sources

Association Between Metabolic Syndrome and Radiographic Changes in Psoriatic Arthritis: A Cohort Study

Arthritis Care &Research, Volume 77, Issue 7, Page 867-872, July 2025.
Objective Metabolic syndrome (MetS) is a known comorbidity of psoriatic arthritis (PsA) and is associated with PsA disease activity. We aimed to explore the association between MetS and radiographic features (peripheral and axial) in PsA. Methods We included patients with PsA followed at our prospective observational cohort for the period between 1978 ...
Fadi Kharouf, Shangyi Gao, S. Ercan Tunc, Justine Y. Ye, Daniel Pereira, Dafna D. Gladman, Vinod Chandran   +6 more
wiley   +1 more source