Results 71 to 80 of about 40,119 (266)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp +4 more
wiley +1 more source
A Rare Case of Antepartum Spontaneous Septostomy in a Monochorionic Diamniotic Twin Pregnancy
Case Reports in Obstetrics and Gynecology, 2012 Spontaneous septostomy in a monochorionic diamniotic twin pregnancy is a rare phenomenon. We present a case of monochorionic diamniotic twin pregnancy with an intact dividing membrane seen in the 1st half of the pregnancy.
Rati Chadha +5 more
doaj +1 more source
Yolk Sacs in Twin Pregnancy [PDF]
Acta geneticae medicae et gemellologiae: twin research, 1998 AbstractOBJECTIVE. The purpose of this study was to evaluate the relationship between the yolk sacs separated or not separated by septum and chorionicity twin pregnancies scanned early in the first trimester, and the relation between size and morphologic features of the yolk sac and the outcome of twin pregnancies.RESULTS.
openaire +3 more sources
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
OUTCOME OF TWIN PREGNANCY IN UNBOOKED CASES
Pakistan Armed Forces Medical Journal, 2005 A descriptive study was carried out to assess the outcome of twin pregnancy in unbooked cases. This study was conducted in Military Hospital, gynae department, Rawalpindi, over a period of 1 year from 1 July 2002 to 31 June 2003.
Naila Bangash
doaj +2 more sources
The effect of twin pregnancy in intrahepatic cholestasis of pregnancy: A case control study
Acta Obstetricia et Gynecologica ScandinavicaIntroduction Intrahepatic cholestasis of pregnancy (ICP) is one of the most common hepatic disorders during pregnancy, and the etiology is thought to be multifactorial including both environmental and hormonal contributions.
Silja Maigaard Axelsen +4 more
doaj +1 more source