Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Maria Lehtilahti"'
Autor:
Joonas Lipponen, Seppo Helisalmi, Joose Raivo, Ari Siitonen, Hiroshi Doi, Harri Rusanen, Maria Lehtilahti, Mervi Ryytty, Markku Laakso, Fumiaki Tanaka, Kari Majamaa, Laura Kytövuori
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021)
Abstract Background The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations. The aim of
Externí odkaz:
https://doaj.org/article/219ba41ea8ff4b1a8810a00e1d1f9a00
Autor:
Anita Korpioja, Johanna Krüger, Anri Hurme-Niiranen, Eino Solje, Kasper Katisko, Joonas Lipponen, Maria Lehtilahti, Anne M. Remes, Kari Majamaa, Laura Kytövuori
Introduction: The biallelic repeat expansion (AAGGG)(exp) in RFC1 causes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Recently, cognitive impairment has been reported in patients with CANVAS and a broader neurodegenerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e673af8fa46c985e84aa0179f58067c0
http://hdl.handle.net/10138/349564
http://hdl.handle.net/10138/349564
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene cause autosomal dominant or autosomal recessive forms of Charcot-Marie-Tooth disease (CMT). Our aim was to study the clinical phenotype o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b28161752c52e3824fc9af524bff10e1
https://pubmed.ncbi.nlm.nih.gov/34632054
https://pubmed.ncbi.nlm.nih.gov/34632054
Autor:
Harri Rusanen, Laura Kytövuori, Ari Siitonen, Joose Raivo, Joonas Lipponen, Kari Majamaa, Markku Laakso, Maria Lehtilahti, Hiroshi Doi, Mervi Ryytty, Fumiaki Tanaka, Seppo Helisalmi
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021)
BMC Neurology
BMC Neurology
Background The genetics of cerebellar ataxia is complex. Hundreds of causative genes have been identified, but only a few cause more than single cases. The spectrum of ataxia-causing genes differs considerably between populations. The aim of the stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa9b2c2b28acc1be15a854b4b8284d2
http://urn.fi/urn:nbn:fi-fe2021112356425
http://urn.fi/urn:nbn:fi-fe2021112356425
Publikováno v:
Neurology Genetics. 7:e629
Background and ObjectivesMutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene cause autosomal dominant or autosomal recessive forms of Charcot-Marie-Tooth disease (CMT). Our aim was to study the clinical phenotype of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fb42ba1519a92467b3f934f1c60d3d7
https://doi.org/10.1212/nxg.0000000000000629
https://doi.org/10.1212/nxg.0000000000000629
Publikováno v:
Neuroepidemiology. 29:136-142
Aims: Incidence and mortality rates of traumatic brain injury (TBI) were investigated by using the Northern Finland Birth Cohort. This cohort provides a valuable source of data from the population born in 1966 (n = 12,058) in the 2 northernmost provi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5a17a310ec8b5c4a78139f1ac55a30e
https://doi.org/10.1159/000110741
https://doi.org/10.1159/000110741
Publikováno v:
Brain injury. 22(10)
Little is known of the role of alcohol intoxication as a risk factor for recurrent traumatic brain injuries (TBI). This study was a population-based longitudinal study to investigate this problem.The record linkage technique was used and data gathere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::672ea03e7603a9de1f9024fd4b89ec02
https://pubmed.ncbi.nlm.nih.gov/18787988
https://pubmed.ncbi.nlm.nih.gov/18787988