J. Mandrioli

Publications148
h-index30
Citations3,641
Highly Influential Citations163
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Janel O. Johnson,1,22 Jessica Mandrioli,4,22 Michael Benatar,5,22 Yevgeniya Abramzon,1,22 Vivianna M. Van Deerlin,6 JohnQ. Trojanowski,6 J. Raphael Gibbs,2,8 Maura Brunetti,9 Susan Gronka,5… Expand
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis… Expand
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Wernicke Encephalopathy: MR Findings at Clinical Presentation in Twenty-Six Alcoholic and Nonalcoholic Patients
BACKGROUND AND PURPOSE: Wernicke encephalopathy is a severe neurologic disorder that results from a dietary vitamin B1 deficiency. It is characterized by changes in consciousness, ocular… Expand
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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic… Expand
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Genetic counselling in ALS: facts, uncertainties and clinical suggestions
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic… Expand
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Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials
Objective: To assess whether genetic subgroups in recent amyotrophic lateral sclerosis (ALS) trials responded to treatment with lithium carbonate, but that the treatment effect was lost in a large… Expand
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Exposure to pesticides and risk of amyotrophic lateral sclerosis: a population-based case-control study.
A few epidemiologic studies have suggested an association of agricultural work and pesticides exposure with a severe degenerative disease of the motor neurons, amyotrophic lateral sclerosis (ALS),… Expand
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Cerebrospinal fluid of newly diagnosed amyotrophic lateral sclerosis patients exhibits abnormal levels of selenium species including elevated selenite.
Exposure to selenium, and particularly to its inorganic forms, has been hypothesized as a risk factor for amyotrophic lateral sclerosis (ALS), a fast progressing motor neuron disease with poorly… Expand
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Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels
Summary Valosin-containing protein (VCP) is a highly expressed member of the type II AAA+ ATPase family. VCP mutations are the cause of inclusion body myopathy, Paget’s disease of the bone, and… Expand
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Lithium carbonate in amyotrophic lateral sclerosis
Background: A neuroprotective effect of lithium in amyotrophic lateral sclerosis (ALS) has been recently reported. We performed a multicenter trial with lithium carbonate to assess its tolerability,… Expand
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