Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ece Sonmezler"'
Autor:
Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
Publikováno v:
iScience, Vol 24, Iss 1, Pp 101948- (2021)
Summary: Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consangu
Externí odkaz:
https://doaj.org/article/2e92aa318b974cfabac7dd6e6609004b
Autor:
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
Publikováno v:
The American Journal of Human Genetics. 110:681-690
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in
Autor:
Rita Horvath, Reza Maroofian, Juliane S Müller, Yavuz Oktay, Mahmut Aslan, Ashwati Nair, Uluç Yiş, Emily O'Heir, Elmasnur Yilmaz, Ana Töpf, Henry Houlden, Steven Laurie, Bilge Özgör, Sergi Beltran, Pinar Edem, K. Polavarapu, Fei Gao, Serdal Güngör, Nur Arslan, Andreas Roos, Hanns Lochmüller, Leslie Matalonga, Katherine Schon, Alysia Kern Lovgren, Angela Lochmüller, Patrick F. Chinnery, Nóra Zs Szabó, Denisa Hathazi, Ida Paramonov, Aliz Rieger, Ahmet Yaramis, Ece Sonmezler, Semra Hız Kurul, Ipek Kalafatcilar, Burcu Ekinci
Publikováno v:
Brain
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5e400847ded38fef658522e2ef5a88
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oai
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oai
Autor:
Uluç Yiş, Lena Zeltner, Ahmet Yaramis, Ece Sonmezler, Elmasnur Yilmaz, Ludger Schöls, Rebecca Schüle, Benjamin Bender, Rita Horvath, Ana Töpf, Inga Liepelt, Sofie Kaemereit, Sarah Wiethoff, Stephan Züchner, Benjamin Munro, Steven Laurie, Yavuz Oktay, Semra Hiz, Christoph Kernstock, Hanns Lochmüller, Serdal Güngör
Publikováno v:
Journal of Neuromuscular Diseases
Journal of neuromuscular diseases 7(3), 301-308 (2020). doi:10.3233/JND-200510
Journal of neuromuscular diseases 7(3), 301-308 (2020). doi:10.3233/JND-200510
Background In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. Objective In this report, we describe two independent
Autor:
Uluç Yiş, Denisa Hathazi, Serdal Güngör, Ezgi Karaca, Ipek Kalafatcilar, Ahmet Yaramis, Ece Sonmezler, Nóra Zs Szabó, Ana Töpf, Elmasnur Yilmaz, Daniel G. MacArthur, Andreas Roos, Burcu Ekinci, Sunitha Balaraju, Steven Laurie, Bilge Özgör, Rita Horvath, Mahmut Aslan, Isabelle Vernos, Yavuz Oktay, Semra Hiz, Hanns Lochmüller, Sergi Beltran, Álvaro Aranguren-Ibáñez
Publikováno v:
iScience
iScience, Vol 24, Iss 1, Pp 101948-(2021)
iScience, Vol 24, Iss 1, Pp 101948-(2021)
Summary Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consangui
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7396541582b104f4e888201af99ec4d8
Autor:
Ana Töpf, E. O'Heir, Rita Horvath, Steve Laurie, Uluç Yiş, Sergi Beltran, Yavuz Oktay, Didem Soydemir, Semra Hiz, Pinar Edem, Hanns Lochmüller, Ece Sonmezler, G. Sarikaya Uzan, Cem Paketçi
Publikováno v:
Brain Dev
Background Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Case Here, we report two sibli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7f13055b88b72b7ef2b301d85423c6d
https://avesis.deu.edu.tr/publication/details/10be9137-3184-4dfe-b3c2-ece6c354022b/oai
https://avesis.deu.edu.tr/publication/details/10be9137-3184-4dfe-b3c2-ece6c354022b/oai
Autor:
Elmasnur Yilmaz, Sunitha Balaraju, Serdal Güngör, Yavuz Oktay, Semra Hiz, Ana Töpf, Hanns Lochmüller, Daniel G. MacArthur, Rachel Thompson, Uluç Yiş, Rita Horvath, Steven Laurie, Andreas Roos, Ahmet Yaramis, Ece Sonmezler
Publikováno v:
European journal of human genetics : EJHG
A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ae66386100761b3649aba86ab8c066
https://www.repository.cam.ac.uk/handle/1810/293649
https://www.repository.cam.ac.uk/handle/1810/293649
Autor:
Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Steven Laurie, Uluç Yiş, Ayşe İpek Polat, Elmasnur Yilmaz, Yavuz Oktay, Semra Hiz, Aysenur Yaramis, Sergi Beltran, Pinar Edem, Hanns Lochmüller, Rita Horvath, Ana Töpf
Publikováno v:
Neurology: Genetics
Objective: this study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods: whole-exome sequencing and bioinformatic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab35767fe3363ad0088bb26608d0eb74
http://hdl.handle.net/10230/44436
http://hdl.handle.net/10230/44436
Autor:
Rita Horvath, Ana Töpf, Uluç Yiş, Gülden Diniz, Yavuz Oktay, Hanns Lochmüller, Semra Hiz, Ece Sonmezler, Figen Baydan, Sezgin Güneş
Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report. Here, we describe a cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebc6116ef3dc3b9f062f25891eac130
https://avesis.deu.edu.tr/publication/details/8acabc85-0698-4115-a96b-7f34921d9e12/oai
https://avesis.deu.edu.tr/publication/details/8acabc85-0698-4115-a96b-7f34921d9e12/oai