FERNANDO SCAGLIA to Brain
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Brain.
Connection Strength
0.816
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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852.
Score: 0.297
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Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. J Child Neurol. 2008 Jan; 23(1):73-8.
Score: 0.118
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Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.
Score: 0.117
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Intracranial calcifications simulating Aicardi-Gouti?res syndrome in PARS2-related mitochondrial disease. Am J Med Genet A. 2024 07; 194(7):e63589.
Score: 0.091
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LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189.
Score: 0.060
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Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. J Child Neurol. 2016 Feb; 31(2):215-9.
Score: 0.049
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Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur J Med Genet. 2012 May; 55(5):299-306.
Score: 0.040
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351.
Score: 0.014
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Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25.
Score: 0.011
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Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011 Jul; 155A(7):1597-604.
Score: 0.009
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Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol Cell Biol. 2005 Nov; 25(22):10190-201.
Score: 0.006
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Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol. 2001 Dec; 50(6):747-54.
Score: 0.005