未登录The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder脊髓小脑性共济失调4型的ZFHX3 GGC重复扩增具有共同的祖先创始人
Chen, Zhongbo; Alvarez Jerez, Pilar; Anderson, Claire; Paucar, Martin; Lee, Jasmaine; Nilsson, Daniel; Macpherson, Hannah; Scardamaglia, Annarita; Montgomery, Kylie; Hardy, John; Singleton, Andrew B.; Tucci, Arianna; Mathews, Katherine D.; Fu, Ying-Hui; Engvall, Martin; Laffita-Mesa, Jose; Nennesmo, Inger; Wedell, Anna; Ptacek, Louis J.; Blauwendraat, Cornelis; Gustavsson, Emil K.; Svenningsson, Per; Ryten, Mina; Houlden, Henry .png)
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收藏Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signsPaucar, Martin; Nilsson, Daniel; Engvall, Martin; Laffita-Mesa, Jose; Soderhall, Cilla; Skorpil, Mikael; Halldin, Christer; Fazio, Patrik; Lagerstedt-Robinson, Kristina; Solders, Goeran; Angeria, Maria; Varrone, Andrea; Risling, Marten; Jiao, Hong; Nennesmo, Inger; Wedell, Anna; Svenningsson, Per 分享 收藏 分享 收藏 分享 收藏 PARKIN is not required to sustain OXPHOS function in adult mammalian tissuesFilograna, Roberta; Gerlach, Jule; Choi, Hae-Na; Rigoni, Giovanni; Barbaro, Michela; Oscarson, Mikael; Lee, Seungmin; Tiklova, Katarina; Ringner, Markus; Koolmeister, Camilla; Wibom, Rolf; Riggare, Sara; Nennesmo, Inger; Perlmann, Thomas; Wredenberg, Anna; Wedell, Anna; Motori, Elisa; Svenningsson, Per; Larsson, Nils-Goran 分享 收藏 Precision medicine in rare diseases: What is next?Tesi, Bianca; Boileau, Catherine; Boycott, Kym M.; Canaud, Guillaume; Caulfield, Mark; Choukair, Daniela; Hill, Sue; Spielmann, Malte; Wedell, Anna; Wirta, Valtteri; Nordgren, Ann; Lindstrand, Anna 分享 收藏 分享 收藏 A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and EpilepsyVaz, Raquel; Wincent, Josephine; Elfissi, Najla; Rosengren Forsblad, Kristina; Pettersson, Maria; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Lindstrand, Anna; Ygberg, Sofia 分享 收藏 Implementing precision medicine in a regionally organized healthcare system in SwedenFioretos, Thoas; Wirta, Valtteri; Cavelier, Lucia; Berglund, Eva; Friedman, Mikaela; Akhras, Michael; Botling, Johan; Ehrencrona, Hans; Engstrand, Lars; Helenius, Gisela; Fagerqvist, Therese; Gisselsson, David; Gruvberger-Saal, Sofia; Gyllensten, Ulf; Heidenblad, Markus; Hoglund, Kina; Jacobsson, Bo; Johansson, Maria; Johansson, Asa; Soller, Maria Johansson; Landstrom, Marene; Larsson, Par; Levin, Lars-Ake; Lindstrand, Anna; Lovmar, Lovisa; Lyander, Anna; Melin, Malin; Nordgren, Ann; Nordmark, Gunnel; Molling, Paula; Palmqvist, Lars; Palmqvist, Richard; Repsilber, Dirk; Sikora, Per; Stenmark, Bianca; Soderkvist, Peter; Stranneheim, Henrik; Strid, Tobias; Wheelock, Craig E.; Wadelius, Mia; Wedell, Anna; Edsjo, Anders; Rosenquist, Richard 分享 收藏 ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyATP6V0C变体损害v-atpase功能，导致通常与癫痫相关的神经发育障碍Mattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew 分享 收藏 Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyBruhn, Helene; Samuelsson, Kristin; Schober, Florian A.; Engvall, Martin; Lesko, Nicole; Wibom, Rolf; Nennesmo, Inger; Calvo-Garrido, Javier; Press, Rayomand; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna 分享 收藏 Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients将全基因组测序整合到医疗环境中: 3219罕见病患者多个临床实体的高诊断率Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Magnusson, Mans; Kvarnung, Malin; Nilsson, Daniel; Lesko, Nicole; Engvall, Martin; Anderlid, Britt-Marie; Arnell, Henrik; Johansson, Carolina Backman; Barbaro, Michela; Bjorck, Erik; Bruhn, Helene; Eisfeldt, Jesper; Freyer, Christoph; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjo, Anna; Hellstrom-Pigg, Maritta; Iwarsson, Erik; Jemt, Anders; Laaksonen, Mikael; Enoksson, Sara Lind; Malmgren, Helena; Naess, Karin; Nordenskjold, Magnus; Oscarson, Mikael; Pettersson, Maria; Rasi, Chiara; Rosenbaum, Adam; Sahlin, Ellika; Sardh, Eliane; Stodberg, Tommy; Tesi, Bianca; Tham, Emma; Thonberg, Hakan; Tohonen, Virpi; von Dobeln, Ulrika; Vassiliou, Daphne; Vonlanthen, Sofie; Wikstrom, Ann-Charlotte; Wincent, Josephine; Winqvist, Ola; Wredenberg, Anna; Ygberg, Sofia; Zetterstrom, Rolf H.; Marits, Per; Soller, Maria Johansson; Nordgren, Ann; Wirta, Valtteri; Lindstrand, Anna; Wedell, Anna 分享 收藏 The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters一碳库通过复合物I和铁硫簇控制线粒体能量代谢Schober, Florian A.; Moore, David; Atanassov, Ilian; Moedas, Marco F.; Clemente, Paula; Vegvari, Akos; El Fissi, Najla; Filograna, Roberta; Bucher, Anna-Lena; Hinze, Yvonne; The, Matthew; Hedman, Erik; Chernogubova, Ekaterina; Begzati, Arjana; Wibom, Rolf; Jain, Mohit; Nilsson, Roland; Kall, Lukas; Wedell, Anna; Freyer, Christoph; Wredenberg, Anna 分享 收藏 Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7Correia, Sandrina P.; Moedas, Marco F.; Naess, Karin; Bruhn, Helene; Maffezzini, Camilla; Calvo-Garrido, Javier; Lesko, Nicole; Wibom, Rolf; Schober, Florian A.; Jemt, Anders; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna 分享 收藏 Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory ChainNaess, Karin; Bruhn, Helene; Stranneheim, Henrik; Freyer, Christoph; Wibom, Rolf; Mourier, Arnaud; Engvall, Martin; Nennesmo, Inger; Lesko, Nicole; Wredenberg, Anna; Wedell, Anna; von Dobeln, Ulrika 分享 收藏 分享 收藏 分享 收藏 FBXL4 deficiency increases mitochondrial removal by autophagyAlsina, David; Lytovchenko, Oleksandr; Schab, Aleksandra; Atanassov, Ilan; Schober, Florian A.; Jiang, Min; Koolmeister, Camilla; Wedell, Anna; Taylor, Robert W.; Wredenberg, Anna; Larsson, Nils-Goran 分享 收藏 分享 收藏 From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability从细胞遗传学到细胞基因组学: 全基因组测序作为一线测试全面捕捉导致智力障碍的各种致病遗传变异Lindstrand, Anna; Eisfeldt, Jesper; Pettersson, Maria; Carvalho, Claudia M. B.; Kvarnung, Malin; Grigelioniene, Giedre; Anderlid, Britt-Marie; Bjerin, Olof; Gustavsson, Peter; Hammarsjo, Anna; Georgii-Hemming, Patrik; Iwarsson, Erik; Johansson-Soller, Maria; Lagerstedt-Robinson, Kristina; Lieden, Agne; Magnusson, Mans; Martin, Marcel; Malmgren, Helena; Nordenskjold, Magnus; Norling, Ameli; Sahlin, Ellika; Stranneheim, Henrik; Tham, Emma; Wincent, Josephine; Ygberg, Sofia; Wedell, Anna; Wirta, Valtteri; Nordgren, Ann; Lundin, Johanna; Nilsson, Daniel 分享 收藏 
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