Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Dvir Dahari"'
Autor:
Lubov Blumkin, Tal Kopler, Teisha Y. Bradshaw, Dvir Dahari, J. Paul Chapple, Marina Michelson, Tally Lerman-Sagie, Dorit Lev, Esther Leshinsky-Silver
Publikováno v:
European Journal of Paediatric Neurology. 19:472-476
Background ARSACS (autosomal–recessive spastic ataxia of Charlevoix-Saguenay) is a neurodegenerative disorder caused by SACS gene mutations and characterized by a triad of symptoms: early-onset cerebellar ataxia, spasticity and peripheral neuropath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7519b4dbb1b56df0c4f41fe88a23569
https://doi.org/10.1016/j.ejpn.2015.02.005
https://doi.org/10.1016/j.ejpn.2015.02.005
Autor:
Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, Dvir Dahari, Ami Haviv, Cohen Sarit, Dorit Lev, Marjo S. van der Knaap, Tally Lerman-Sagie, Esther Leshinsky-Silver
Publikováno v:
neurogenetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::851b1cb37269545d163830afeeec7175
https://doi.org/10.1007/s10048-014-0401-5
https://doi.org/10.1007/s10048-014-0401-5
Autor:
Ami Haviv, Marjo S. van der Knaap, Tally Lerman-Sagie, Esther Leshinsky-Silver, Cohen Sarit, Lubov Blumkin, Dominique Ben-Ami-Raichman, Dvir Dahari, Ayelet Halevy, Dorit Lev
Publikováno v:
Blumkin, L, Halevy, A, Ben-Ami-Raichman, D, Dahari, D, Haviv, A, Sarit, C, Lev, D, van der Knaap, M S, Lerman-Sagie, T & Leshinsky-Silver, E 2014, ' Reply to: The many faces of TUBB4A mutations ', Neurogenetics, vol. 15, no. 2, pp. 83-83 . https://doi.org/10.1007/s10048-014-0400-6
Neurogenetics, 15(2), 83-83. Springer Verlag
Neurogenetics, 15(2). Springer Verlag
Neurogenetics, 15(2), 83-83. Springer Verlag
Neurogenetics, 15(2). Springer Verlag
Dear Sirs, We have read with interest the letter by Lohmann and Klein regarding our paper Expansion of the spectrum of TUBB4Arelated disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Lohmann and Klein expand our knowledg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12bb1b38819ce628cb477bef63c6cce4
https://research.vumc.nl/en/publications/533045b8-7ebf-4eea-b451-0a82940fd4d3
https://research.vumc.nl/en/publications/533045b8-7ebf-4eea-b451-0a82940fd4d3
Autor:
Cohen Sarit, Dvir Dahari, Lubov Blumkin, Dominique Ben-Ami-Raichman, Tally Lerman-Sagie, Dorit Lev, Marjo S. van der Knaap, Ami Haviv, Esther Leshinsky-Silver, Ayelet Halevy
Publikováno v:
Neurogenetics, 15(2), 107-113. Springer Verlag
Blumkin, L, Halevy, A, Ben-Ami-Raichman, D, Dahari, D, Haviv, A, Sarit, C, Lev, D, van der Knaap, M S, Lerman-Sagie, T & Leshinsky-Silver, E 2014, ' Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene ', Neurogenetics, vol. 15, no. 2, pp. 107-113 . https://doi.org/10.1007/s10048-014-0392-2
Blumkin, L, Halevy, A, Ben-Ami-Raichman, D, Dahari, D, Haviv, A, Sarit, C, Lev, D, van der Knaap, M S, Lerman-Sagie, T & Leshinsky-Silver, E 2014, ' Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene ', Neurogenetics, vol. 15, no. 2, pp. 107-113 . https://doi.org/10.1007/s10048-014-0392-2
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b9f42a3bfb9314d5877091642b6617f
https://pure.amc.nl/en/publications/expansion-of-the-spectrum-of-tubb4arelated-disorders-a-new-phenotype-associated-with-a-novel-mutation-in-the-tubb4a-gene(1603cbcf-2df6-411f-8c0d-7fdd2c79f0b8).html
https://pure.amc.nl/en/publications/expansion-of-the-spectrum-of-tubb4arelated-disorders-a-new-phenotype-associated-with-a-novel-mutation-in-the-tubb4a-gene(1603cbcf-2df6-411f-8c0d-7fdd2c79f0b8).html