Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Andrea Delle Vedove"'
Autor:
Eva Janzen, Lisa Wolff, Natalia Mendoza-Ferreira, Kristina Hupperich, Andrea Delle Vedove, Seyyedmohsen Hosseinibarkooie, Min Jeong Kye, Brunhilde Wirth
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Many neurodegenerative disorders share common pathogenic pathways such as endocytic defects, Ca2+ misregulation and defects in actin dynamics. Factors acting on these shared pathways are highly interesting as a therapeutic target. Plastin 3 (PLS3), a
Externí odkaz:
https://doaj.org/article/65c3660dc28c4f03babf89ef4c4949db
Autor:
Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Matthias Eckenweiler, Anixa Muiños-Bühl, Markus Storbeck, Jordina Guillén Boixet, Sabina Barresi, Simone Pizzi, Irmgard Hölker, Friederike Körber, Titus M. Franzmann, Enrico S. Bertini, Janbernd Kirschner, Simon Alberti, Marco Tartaglia, Brunhilde Wirth
Publikováno v:
Cellular and Molecular Life Sciences
CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated children, who developed early-onset ataxia, dysarth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67874dab10c41ab0526b164957db96f
https://doi.org/10.21203/rs.3.rs-1838998/v1
https://doi.org/10.21203/rs.3.rs-1838998/v1
Autor:
Andrea, Delle Vedove, Janani, Natarajan, Ginevra, Zanni, Matthias, Eckenweiler, Anixa, Muiños-Bühl, Markus, Storbeck, Jordina, Guillén Boixet, Sabina, Barresi, Simone, Pizzi, Irmgard, Hölker, Friederike, Körber, Titus M, Franzmann, Enrico S, Bertini, Janbernd, Kirschner, Simon, Alberti, Marco, Tartaglia, Brunhilde, Wirth
Publikováno v:
Cellular and molecular life sciences : CMLS. 79(10)
CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated children, who developed early-onset ataxia, dysarth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fde2003976f29e9d8503ae63f764e036
https://pubmed.ncbi.nlm.nih.gov/36136249
https://pubmed.ncbi.nlm.nih.gov/36136249
Autor:
Peter Nürnberg, Tobias Eisenberger, Dirk Mürbe, Christian Decker, Nataliya Di Donato, Mohammad R. Toliat, Andrea Delle Vedove, Christine Neuhaus, Gudrun Nürnberg, Hanno J. Bolz
Publikováno v:
Genetics in Medicine
Purpose Hearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family with nonsyndromic mild to severe hearing loss of the mid- to high frequencies and onset from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::077c64d0c1f8d49ab106d662ff6fe5da
https://doi.org/10.1038/gim.2017.155
https://doi.org/10.1038/gim.2017.155
Autor:
Vincenzo Salpietro, Matthew Pitt, Qiaohong Ye, Markus Storbeck, Brunhilde Wirth, Ken McElreavey, Weichun Lin, Sharon Aharoni, Sarah Wiethoff, Adnan Y. Manzur, Lina Basel-Vanagaite, Yun Liu, Monika Weisz Hubshman, Andreea Manole, Andrea Delle Vedove, Henry Houlden, Oscar D. Bello, Shyam S. Krishnakumar, James E. Rothman, Anand Saggar, Stephanie Efthymiou
Publikováno v:
Annals of Neurology. 81:597-603
We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b2df26074b37cf2bfa71f004793101a
https://doi.org/10.1002/ana.24905
https://doi.org/10.1002/ana.24905
Autor:
Katharina Vezyroglou, Olafur Th Magnusson, Susanne Motameny, Janine Altmueller, Salem Alawbathani, Reza Maroofian, Bertold Schrank, Uluç Yiş, Irmgard Hölker, Raoul Heller, Janbernd Kirschner, Leyla Naghiyeva, Lea Schmitz-Steinkrüger, Mert Karakaya, Eike A. Strathmann, Brunhilde Wirth, Holger Thiele, Derya Okur, Peter Nürnberg, Markus Storbeck, Ayşe İpek Polat, Ehsan Ghayoor Karimiani, Gilbert Wunderlich, Haluk Topaloglu, Didem Ardicli, Andrea Delle Vedove, Reza Boostani
Publikováno v:
Human mutation. 39(9)
Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron degeneration (LMND). In a large cohort of 3,465 individuals suspected with SMA subm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6050a017542c44fd90fe08bb67f96efb
https://pubmed.ncbi.nlm.nih.gov/29858556
https://pubmed.ncbi.nlm.nih.gov/29858556
Autor:
Olafur T. Magnusson, Markus Storbeck, Andrea Delle Vedove, Brunhilde Wirth, Irmgard Hölker, Raoul Heller, Bart Loeys, Katta M. Girisha, Mary O’Driscoll, Malavika Hebbar, Sebahattin Cirak, Anju Shukla
Publikováno v:
The American journal of human genetics
We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::834022e803ef60a17e955788dc1d58ff
https://pubmed.ncbi.nlm.nih.gov/27912047
https://pubmed.ncbi.nlm.nih.gov/27912047