Results 141 to 150 of about 100,164 (294)

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

AO Spine Clinical Practice Recommendations: Sagittal Alignment Assessment and Planning in Adult Spinal Deformity Surgery. [PDF]

Global Spine J
Rienmueller A, Oitment C, Jentzsch T, Teles A, Hills J, Fisher C, Yilgor C, Kelly M, AO Spine Knowledge Forum Deformity.   +8 more
europepmc   +1 more source

Nonoperative Treatment of Adult Spinal Deformity: A Comprehensive Narrative Review. [PDF]

J Clin Med
Zlatanos CG, Hassanin MA, Aly A, Salem KM, Quraishi NA.   +4 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Do Publicly Available Risk Calculators Apply to Adult Spinal Deformity Surgery? [PDF]

J Clin Med
Pajak A, Samuel JT, Subramanian T, Merrill RK, Akosman I, Clohisy JC, Du J, Zhang B, Elysee J, Shahi P, Kim DN, Jordan Y, Knopp RL, Lovecchio FC, Kim HJ.   +14 more
europepmc   +1 more source

Introduction: Adult spinal deformity

Neurosurgical Focus, 2010
David O. Okonkwo, Praveen V. Mummaneni
openaire   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Superior displacement of the inflexion point does not predict proximal junctional kyphosis after fusion for adult spinal deformity. [PDF]

J Spine Surg
Evola V, Daulat SR, Dholaria N, Saleh D, Soto Rubio DT, Rostami M, Alikhani P.   +6 more
europepmc   +1 more source