Patient perspective in hereditary ataxia by Gorcenco, S., Karremo, C., Puschmann, A.

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A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4 by Dobloug, S., Gorcenco, S., Ehrencrona, H., Puschmann, A.

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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms by Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C.C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.

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Ataxia project in Scania, Sweden: Study outline and current status by Gorcenco, S., Karremo, C., Kafantari, E., Puschmann, A.

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Gain-of-function SAMD9L mutations cause a syndrome with cytopenia, myelodysplastic syndrome, immunodeficiency and neurological disease by Tesi, B, Davidsson, J, Voss, M, Rahikkala, E, Holmes, T, Chiang, S, Komulainen-Ebrahim, J, Gorcenco, S, Nilsson, AR, Ripperger, T, Kokkonen, H, Bryder, D, Fioretos, T, Henter, J, Mottonen, M, Niinimaki, R, Nilsson, L, Pronk, CJ, Puschmann, A, Qian, H, Uusimaa, J, Moilanen, J, Tedgard, U, Cammenga, J, Bryceson, YT

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Patients’ Perspective in Hereditary Ataxia by Gorcenco, Sorina, Karremo, Christin, Puschmann, Andreas

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Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia by Cundari, Maurizio, Vestberg, Susanna, Gustafsson, Peik, Gorcenco, Sorina, Rasmussen, Anders

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Corrigendum: Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia by Cundari, Maurizio, Vestberg, Susanna, Gustafsson, Peik, Gorcenco, Sorina, Rasmussen, Anders

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Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3 by Prudencio, Mercedes, Garcia-Moreno, Hector, Jansen-West, Karen R, Al-Shaikh, Rana Hanna, Gendron, Tania F, Heckman, Michael G, Spiegel, Matthew R, Carlomagno, Yari, Daughrity, Lillian M, Song, Yuping, Dunmore, Judith A, Byron, Natalie, Oskarsson, Björn, Nicholson, Katharine A, Staff, Nathan P, Gorcenco, Sorina, Puschmann, Andreas, Lemos, João, Januário, Cristina, LeDoux, Mark S, Friedman, Joseph H, Polke, James, Labrum, Robin, Shakkottai, Vikram, McLoughlin, Hayley S, Paulson, Henry L, Konno, Takuya, Onodera, Osamu, Ikeuchi, Takeshi, Tada, Mari, Kakita, Akiyoshi, Fryer, John D, Karremo, Christin, Gomes, Inês, Caviness, John N, Pittelkow, Mark R, Aasly, Jan, Pfeiffer, Ronald F, Veerappan, Venka, Eggenberger, Eric R, Freeman, William D, Huang, Josephine F, Uitti, Ryan J, Wierenga, Klaas J, Marin Collazo, Iris V, Tipton, Philip W, van Gerpen, Jay A, van Blitterswijk, Marka, Bu, Guojun, Wszolek, Zbigniew K, Giunti, Paola, Petrucelli, Leonard

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New generation genetic testing entering the clinic by Gorcenco, Sorina, Ilinca, Andreea, Almasoudi, Wejdan, Kafantari, Efthymia, Lindgren, Arne G., Puschmann, Andreas

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Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease by Wallenius, Joel, Kafantari, Efthymia, Jhaveri, Emma, Gorcenco, Sorina, Ameur, Adam, Karremo, Christin, Dobloug, Sigurd, Karrman, Kristina, de Koning, Tom, Ilinca, Andreea, Landqvist Waldö, Maria, Arvidsson, Andreas, Persson, Staffan, Englund, Elisabet, Ehrencrona, Hans, Puschmann, Andreas

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Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia by Gorcenco, Sorina, Kafantari, Efthymia, Wallenius, Joel, Karremo, Christin, Alinder, Erik, Dobloug, Sigurd, Landqvist Waldö, Maria, Englund, Elisabet, Ehrencrona, Hans, Wictorin, Klas, Karrman, Kristina, Puschmann, Andreas

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Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? by Gorcenco, Sorina, Vaz, Frédéric M., Tracewska-Siemiatkowska, Anna, Tranebjærg, Lisbeth, Cremers, Frans P.M., Ygland, Emil, Kicsi, Jenő, Rendtorff, Nanna Dahl, Möller, Claes, Kjellström, Ulrika, Andréasson, Sten, Puschmann, Andreas

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Ataxia-pancytopenia syndrome with SAMD9L mutations by Gorcenco, Sorina, Komulainen-Ebrahim, Jonna, Nordborg, Karin, Suo-Palosaari, Maria, Andréasson, Sten, Krüger, Johanna, Nilsson, Christer, Kjellström, Ulrika, Rahikkala, Elisa, Turkiewicz, Dominik, Karlberg, Mikael, Nilsson, Lars, Cammenga, Jörg, Tedgård, Ulf, Davidsson, Josef, Uusimaa, Johanna, Puschmann, Andreas

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Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? by Gorcenco, Sorina, Vaz, Frédéric M, Tracewska-Siemiatkowska, Anna, Tranebjærg, Lisbeth, Cremers, Frans P M, Ygland, Emil, Kicsi, Jenő, Rendtorff, Nanna Dahl, Möller, Claes, Kjellström, Ulrika, Andréasson, Sten, Puschmann, Andreas

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