About: Franco Taroni

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Italian researcher

Attributes	Values
rdf:type	Item
description	Forscher (de) investigador (es) wetenschapper (nl) дослідник (uk) 研究者 (zh) investigador italianu (ast) chercheur italien (fr) ikertzaile italiarra (eu) investigador italiano (gl) investigador italiano (pt) investigador italià (ca) Italian researcher (en) باحث إيطالي (ar) ricercatore italiano (it)
rdfs:label	F Taroni (es) F Taroni (nl) F Taroni (sl) F Taroni (ast) Franco Taroni (ca) Franco Taroni (en) Franco Taroni (fr) Franco Taroni (it) Franco Taroni (sq)
skos:prefLabel	F Taroni (es) F Taroni (nl) F Taroni (sl) F Taroni (ast) Franco Taroni (ca) Franco Taroni (en) Franco Taroni (fr) Franco Taroni (it) Franco Taroni (sq)
name	F Taroni (es) F Taroni (nl) F Taroni (sl) F Taroni (ast) Franco Taroni (ca) Franco Taroni (en) Franco Taroni (fr) Franco Taroni (it) Franco Taroni (sq)
BDELIS ID	wds:Q67510435-24B7A27C-74EB-4347-B67D-359EB24522B4
BDELIS ID	80989
given name	wds:Q67510435-8fb0a8d0-4754-3164-3025-362288e7aac2
given name	Franco
instance of	wds:Q67510435-95352B3C-45DA-4D6C-A018-5010BB5BF8B2
instance of	Homo sapiens
Google Scholar author ID	wds:Q67510435-63061d76-4a91-454b-9088-271d5fb6deed
Google Scholar author ID	cpY1k_EAAAAJ
occupation	wds:Q67510435-2a08e1c4-46ae-9bd6-92ba-85c2614e15ce wds:Q67510435-46ef74bf-4910-b4a9-8ec1-7fb0fe47b158
languages spoken, written or signed	wds:Q67510435-9C28D917-161E-434E-838B-253970EA9B5A
sex or gender	wds:Q67510435-7a1e6dd3-4232-0029-fe8d-67f2613bda8d
country of citizenship	wds:Q67510435-57d3aeb1-44ec-9d91-c191-3003cf9cd51d
family name	wds:Q67510435-a0656ca7-4a09-1547-966a-04b8a3d252d8
occupation	neuroscientist geneticist
languages spoken, written or signed	Italian
sex or gender	male
country of citizenship	Italy
family name	Taroni
ORCID iD	wds:Q67510435-6725E721-BEA4-4614-A7B7-04C2797AE831
ORCID iD	https://orcid.org/0000-0002-2420-5233
ORCID iD	0000-0002-2420-5233
ResearcherID	wds:Q67510435-b12463cf-4452-56b0-e49b-2462ef122ea8
Publons author ID	wds:Q67510435-b92c8f76-467a-e8a5-906f-c40bd32cce69
ResearcherID	N-3879-2013
Publons author ID	2581619
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q67510435
is author of	High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation Impaired vasoreactivity in mildly disabled CADASIL patients Frataxin, iron-sulfur clusters, heme, ROS, and aging. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations. Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells. Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells. A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. Alpha-lipoic acid prevents mitochondrial damage and neurotoxicity in experimental chemotherapy neuropathy Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. NMDA receptor composition differs among anatomically diverse malformations of cortical development. Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial. Four novel cases of periaxin-related neuropathy and review of the literature.

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