Results 201 to 210 of about 1,710,065 (268)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

open access: yesAnnals 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

Evidence for direct and sleep-moderated relationships between aquaporin-4 genetic variants and Alzheimer's disease phenotypes. [PDF]

open access: yesAlzheimers Dement
Porter T   +12 more
europepmc   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez   +10 more
wiley   +1 more source

B6 Donor Lungs Develop Chronic Lung Allograft Dysfunction-like Pathology Across Histocompatibility Mismatches in Murine Lung Transplantation. [PDF]

open access: yesTransplant Direct
Kaiho T   +9 more
europepmc   +1 more source

Mechanical Compression Versus Vascular Closure Devices for Femoral Artery Haemostasis After Peripheral Endovascular Procedures: A Randomised Controlled Trial. [PDF]

open access: yesJ Clin Med
Shevchenko I   +10 more
europepmc   +1 more source

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