Search Results - "Fay, Alex J."
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Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
Published in Nature communications (12-07-2021)“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in…”
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Microtubule Plus-End-Tracking Proteins Target Gap Junctions Directly from the Cell Interior to Adherens Junctions
Published in Cell (09-02-2007)“…Gap junctions are intercellular channels that connect the cytoplasms of adjacent cells. For gap junctions to properly control organ formation and electrical…”
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Pediatric Hemorrhagic Brainstem Encephalitis Associated With HHV-7 Infection
Published in Pediatric neurology (01-12-2015)“…Abstract Background Human herpesviruses-6 and -7 have been associated with febrile seizures and with encephalitis, the latter predominantly in…”
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SK Channels Mediate NADPH Oxidase-Independent Reactive Oxygen Species Production and Apoptosis in Granulocytes
Published in Proceedings of the National Academy of Sciences - PNAS (14-11-2006)“…Neutrophils are immune cells that bind to, engulf, and destroy bacterial and fungal pathogens in infected tissue, and their clearance by apoptosis is essential…”
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Neuromuscular Diseases of the Newborn
Published in Seminars in pediatric neurology (01-12-2019)“…The peripheral nervous system (PNS) is composed of motor neurons, nerve roots, plexuses, peripheral nerves (motor, sensory and autonomic), neuromuscular…”
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Relapse severity and recovery in early pediatric multiple sclerosis
Published in Multiple sclerosis (01-07-2012)“…Background: Factors determining severity and recovery of early demyelinating events in pediatric multiple sclerosis (MS) patients are unknown. Objective: The…”
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Treatment of Leukoencephalopathy with Calcifications and Cysts with Bevacizumab
Published in Pediatric neurology (01-06-2017)“…Abstract Background Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare, autosomal recessive cerebral microangiopathy that causes progressive…”
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Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants
Published in Brain (London, England : 1878) (18-07-2024)“…Dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor potential vanilloid 4) cause diverse and largely distinct channelopathies,…”
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Microtubule Plus-End-Tracking Proteins Target Gap Junctions Directly from the Cell Interior to Adherens Junctions
Published in Cell (18-04-2008)Get full text
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