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Article
Open AccessIntegrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association
The application of next-generation sequencing (NGS) to clinical practice is still hampered by the ability to interpret the clinical relevance of novel variants and the difficulty of evaluating their effect in ...
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Article
Listeria meningoencephalitis and anti-GQ1b antibody syndrome
We report the first case of Listeria monocytogenes meningoencephalitis associated with anti-GQ1b antibody syndrome in an immunocompetent adult. A prompt diagnosis, made thanks to the multidisciplinary contributio...
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Article
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1
Primary hyperoxaluria type 1 (PH1) is an inborn error of liver metabolism due to deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), which catalyzes conversion of glyoxylate into gl...
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Article
SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction
Helper-dependent adenoviral (HDAd) vectors can mediate long-term, high-level transgene expression from transduced hepatocytes without inducing chronic toxicity. However, vector therapeutic index is narrow beca...
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Article
Erratum to: Miller–Fisher syndrome following vaccination against influenza virus A/H1N1 in an AIDS patient
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Article
Miller–Fisher syndrome following vaccination against influenza virus A/H1N1 in an AIDS patient
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Article
Reply to: “Miller Fisher syndrome following vaccination”
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Chapter and Conference Paper
Cerebrospinal fluid markers of demyelination: MBP and anti-brain protein antibodies
In multiple sclerosis (MS), an inflammatory mechanism leads to demyelination and release of myelin proteins. The destroyed myelin is engulfed by macrophages as vesicular material. One of the most studied prote...
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Article
Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
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Article
Multiple sclerosis onset after antitetanus toxoid immunoglobulin prophylaxis
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Article
Lymphocyte activating factor activity in the serum and cerebrospinal fluid of patients with multiple sclerosis
Serum and cerebrospinal fluid (CSF) from patients with multiple sclerosis (MS), patients with other (non-inflammatory) neurological diseases (OND), patients with non-inflammatory non-neurological diseases, and...
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Article
Anti-HTLV-I antibodies in the serum and CSF from amyotrophic lateral sclerosis patients: negative findings
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Article
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder
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Chapter
Adrenomyeloneurodystrophy with Late Cerebral Involvement and Evidence of a Multiple Autoimmune Disorder
The classical form of adrenoleukodystrophy (ALD; McKusick 20237) has infantile onset. Adrenomyeloneurodystrophy (AMN), having genetic, biochemical and ultrastructural features closely correlated to those of AL...
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Article
Altered CSF protein pattern in a case of mycosis fungoides with nervous system involvement
We report the clinical, neurophysiological and CSF study in a case of mycosis fungoides with nervous system involvement. The CSF contained an abnormal protein of molecular weight 22000 that was not in the pati...
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Chapter
Certain Surface Properties of Isolated and Cultured Cerebellar Cells
In order to further the understanding of the biochemical properties of the different neural cell types we have been engaged over the last few years in studies aimed at the separation and characterization of pe...
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Article
Neurochemical changes in creutzfeldt-jakob disease
A biochemical study of a case affected by Creutzfeldt-Jakob disease is reported. Changes were found in soluble and insoluble proteins, glycoproteins and mucopolysaccharides and in total lipids, glycolipids, ph...
