Search Results - "Gramegna, Laura L."
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Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations
Published in Annals of clinical and translational neurology (01-06-2021)“…Objective The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy (1H‐MRS) findings with serum…”
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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Published in American journal of human genetics (07-03-2024)“…The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit…”
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Proton MR Spectroscopy in Patients With Sleep-Related Hypermotor Epilepsy (SHE): Evidence of Altered Cingulate Cortex Metabolism
Published in Sleep (New York, N.Y.) (01-09-2017)“…Abstract Study Objectives To identify structural and/or metabolic alterations in patients with sleep-related hypermotor epilepsy (SHE) using magnetic resonance…”
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Abstract 41: Conventional vs Advanced Imaging for the Selection of Stroke Therapy in the Extended Window (VESTA Study)
Published in Stroke (1970) (01-02-2024)“…Abstract only Background: The optimal imaging modality for treatment selection in the extended stroke window is uncertain. VESTA study (NCT05299034) compared…”
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Abstract 81: Radial versus Femoral Access for Mechanical Thrombectomy in Patients With Large Vessel Occlusion: A Randomized Clinical Trial
Published in Stroke (1970) (01-02-2024)“…Abstract only Introduction: Femoral artery is the most used access for mechanical thrombectomy (MT) in stroke patients with a large vessel occlusion. Routine…”
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Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‐Ataxia Working Group
Published in Annals of neurology (01-10-2021)“…Objective Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive…”
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