About: Filippo Maria Santorelli

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Italian neurologist (1964-)

Attributes	Values
rdf:type	Item
description	wetenschapper (nl) дослідник (uk) Italian neurologist (1964-) (en) neurologo italiano (1964-) (it)
rdfs:label	Filippo Maria Santorelli (ca) Filippo Maria Santorelli (de) Filippo Maria Santorelli (en) Filippo Maria Santorelli (es) Filippo Maria Santorelli (fr) Filippo Maria Santorelli (ga) Filippo Maria Santorelli (it) Filippo Maria Santorelli (nl) Filippo Maria Santorelli (pt) Filippo Maria Santorelli (sl) Filippo Maria Santorelli (sq) Filippo Maria Santorelli (pt-br) Filippo Maria Santorelli (ast)
skos:prefLabel	Filippo Maria Santorelli (ca) Filippo Maria Santorelli (de) Filippo Maria Santorelli (en) Filippo Maria Santorelli (es) Filippo Maria Santorelli (fr) Filippo Maria Santorelli (ga) Filippo Maria Santorelli (it) Filippo Maria Santorelli (nl) Filippo Maria Santorelli (pt) Filippo Maria Santorelli (sl) Filippo Maria Santorelli (sq) Filippo Maria Santorelli (pt-br) Filippo Maria Santorelli (ast)
name	Filippo Maria Santorelli (ca) Filippo Maria Santorelli (de) Filippo Maria Santorelli (en) Filippo Maria Santorelli (es) Filippo Maria Santorelli (fr) Filippo Maria Santorelli (ga) Filippo Maria Santorelli (it) Filippo Maria Santorelli (nl) Filippo Maria Santorelli (pt) Filippo Maria Santorelli (sl) Filippo Maria Santorelli (sq) Filippo Maria Santorelli (pt-br) Filippo Maria Santorelli (ast)
Scopus author ID	wds:Q60541206-423A6C05-AC99-4785-A075-7B116548BAB2
Scopus author ID	7006490405
given name	wds:Q60541206-453B4ED0-C9F0-4BF6-8B8E-0D8D924D8E88
given name	Filippo Maria
instance of	wds:Q60541206-62FA2BBD-51A9-492F-94A8-85E3A989F963
instance of	Homo sapiens
IRIS Sapienza author ID	wds:Q60541206-993B7EC4-18B4-4B84-AC3A-DF1D7BCC6CBE
IRIS Sapienza author ID	94439
curriculum vitae URL	wds:Q60541206-03b85e30-46ae-962d-eeb0-b7499dba1318
curriculum vitae URL	https://web.uniroma1.it/dip_dmcm/sites/default/files/CV%20Santorelli%20Filippo%20Maria2017.pdf
work location	wds:Q60541206-0A325992-40FA-4986-B462-25B97E92EBA0
work location	Pisa
skos:altLabel	F M Santorelli (en) F. M. Santorelli (en) Filippo M Santorelli (nl) Filippo M. Santorelli (en) Filippo M. Santorelli (it) Filippo Santorelli (en)
occupation	wds:Q60541206-B0E5C4A9-206D-4262-9ED7-15359EFD4EA9
employer	wds:Q60541206-69ce1fe5-43fb-4582-24b0-7791406b2c0f
languages spoken, written or signed	wds:Q60541206-094EB0F5-FF74-4732-851D-7EE5DE8202B0 wds:q60541206-b53cee51-417f-93ba-4f0d-4550da9fa865
sex or gender	wds:Q60541206-790e92a4-4cff-7636-b737-1792cbb6584b
country of citizenship	wds:Q60541206-2dee614e-4eff-b3f3-a812-e2740616455f
date of birth	wds:Q60541206-fd89418a-467d-38c6-eb1f-23eae78ed512
family name	wds:Q60541206-895E1454-357C-42DA-98E3-EE08C77B9C91
occupation	neurologist
employer	Fondazione Stella Maris
languages spoken, written or signed	English Italian
sex or gender	male
country of citizenship	Italy
date of birth	1964-01-01 00:00:00Z (xsd:dateTime)
family name	Santorelli
ORCID iD	wds:Q60541206-0E700131-5BC5-4515-BC84-06A9411FFB72
ORCID iD	https://orcid.org/0000-0002-1359-9062
ORCID iD	0000-0002-1359-9062
ResearcherID	wds:Q60541206-FBE72C42-0272-4299-A8F3-010B8B27B88C
ResearcherID	A-2205-2014
ARPI author ID	wds:Q60541206-57BF327E-6E10-48B1-A8A6-02C144962554
ARPI author ID	50349
IRIS UNINA author ID	wds:Q60541206-7D5B3028-4CFC-480A-A1D5-FCD679A91E25
IRIS UNINA author ID	44243
is owl:sameAs of	Filippo Maria Santorelli
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q60541206
is author of	A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1. Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Muscle MRI in TRPV4-related congenital distal SMA Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. MPV17: Fatal hepatocerebral presentation in a Brazilian infant The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine Familial basilar migraine associated with a new mutation in the ATP1A2 gene

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