부산대학교 도서관

Dulski, J.; Pant, D.C.; Hoffman-Zacharska, D.; Kwaśniak-Butowska, M.; Wszolek, Z.K.; Sławek, J.

Parkinsonism and Related Disorders. 134

Paprocka, Justyna ; Steinborn, Barbara ; Krygier, Magdalena ; Winczewska-Wiktor, Anna ; Przyslo, Lukasz ; Hutny, Michał ; Hoffman-Zacharska, Dorota ; Mazurkiewicz, Hanna ; Kochanowska, Iwona ; Zebrowska, Joanna ; Zawadzka, Marta ; Piasecki, Leszek ; Mazurkiewicz-Beldzinska, Maria

In Seizure: European Journal of Epilepsy August 2024 120:201-209

Pant, D.; Hoffman-Zacharska, D.; Kwaśniak-Butowska, M.; Wszolek, Z.

European Journal of Neurology. 32(suppl. S1):158-159

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321

Dulski J; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.; Pant DC; Department of Cell Biology, Emory University, Atlanta, GA, USA.; Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Kwaśniak-Butowska M; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.; Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: Wszolek.Zbigniew@mayo.edu.; Sławek J; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.

Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE

Hanna Al-Shaikh, Rana ; Milanowski, Lukasz M. ; Holla, Vikram V. ; Kurihara, Kanako ; Yadav, Ravi ; Kamble, Nitish ; Muthusamy, Babylakshmi ; Bellad, Anikha ; Koziorowski, Dariusz ; Szlufik, Stanislaw ; Hoffman-Zacharska, Dorota ; Fujioka, Shinsuke ; Tsuboi, Yoshio ; Ross, Owen A. ; Wierenga, Klaas ; Uitti, Ryan J. ; Wszolek, Zbigniew ; Pal, Pramod Kumar

In Parkinsonism and Related Disorders August 2022 101:66-74

Milanowski, L.; Hanna AL-Shaikh, R.; Holla, V.; Kurihara, K.; Yadav, R.; Kamble, N.; Muthusamy, B.; Koziorowski, D.; Szlufik, S.; Hoffman-Zacharska, D.; Fujioka, S.; Ross, O.A.; Wierenga, K.; Wszolek, Z.K.; Pal, P.K.

Parkinsonism and Related Disorders. 113

Coppola A1; 2 3; Cellini E4; Stamberger H5; 6 7; Saarentaus E8; 9 10; Cetica V4; Lal D10; 11 12; Djémié T5; 6; Bartnik-Glaska M13; Ceulemans B14; Cross JH15; 16 17; Deconinck T5; De Masi S7; Dorn T18; Guerrini R; Hoffman-Zacharska D14; Kooy F19; Lagae L20; Lench N21; Lemke JR22; Lucenteforte E23; Madia F25; Mefford HC26; Morrogh D21; Nuernberg P27; Palotie A11; Schoonjans AS15; Striano P28; Szczepanik E29; Tostevin A1; 2; Vermeesch JR30; Van Esch H30; Van Paesschen W31; Waters JJ21; Weckhuysen S5; 6 12; Zara F25; De Jonghe P5; Sisodiya SM1; Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium. Lehesjioki AE; Craiu D; Talvik T; Caglayan H; Serratosa J; Sterbova K; Møller RS; Hjalgrim H; Lerche H; Weber Y; Helbig I; von Spiczak S; Barba C; Bogaerts A; Boni A; Galizia EC; Chiari S; Di Gacomo G; Ferrari A; Garducci S; Giglio S; Holmgren P; Leu C; Melani F; Novara F; Pantaleo M; Peeters E; Pisano T; Rosati A; Sander J; Schoeler N; Stankiewicz P; Striano S; Suls A; Traverso M; Vandeweyer G; Van Dijck A; Zuffardi O.

Epilepsia
Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal, D, Djemie, T, Bartnik-Glaska, M, Ceulemans, B, Cross, J H, Deconinck, T, De Masi, S, Dorn, T, Guerrini, R, Hoffman-Zacharska, D, Kooy, F, Lagae, L, Lench, N, Lemke, J R, Lucenteforte, E, Madia, F, Mefford, H C, Morrogh, D, Nuernberg, P, Palotie, A, Schoonjans, A-S, Striano, P, Szczepanik, E, Tostevin, A, Vermeesch, J R, Van Esch, H, Van Paesschen, W, Waters, J J, Weckhuysen, S, Zara, F, Jonghe, P D, Sisodiya, S M, Marini, C, EuroEPINOMICS RES Consortium, Moller, R S & Hjalgrim, H 2019, ' Diagnostic implications of genetic copy number variation in epilepsy plus ', Epilepsia, vol. 60, no. 4, pp. 689-706 . https://doi.org/10.1111/epi.14683

Skwara J; Student's Scientific Group, Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland.; Nowicki M; Student's Scientific Group, Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland.; Sharif L; Student's Scientific Group, Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland.; Milanowski Ł; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Ludwika Kondratowicza 8, Warsaw, 03-242, Poland. lukasz.milanowski@wum.edu.pl.; Dulski J; Department of Neurology and Stroke, St. Adalbert Hospital, Gdańsk, Poland.; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.; Elert-Dobkowska E; Department of Genetics, Institute Psychiatry and Neurology, Warsaw, Poland.; Skrzypek K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Koziorowski D; Department of Neurology, Faculty of Health Sciences, Medical University of Warsaw, Ludwika Kondratowicza 8, Warsaw, 03-242, Poland.; Sławek J; Department of Neurology and Stroke, St. Adalbert Hospital, Gdańsk, Poland.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdańsk, Poland.

Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 9702341 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-1463 (Electronic) Linking ISSN: 03009564 NLM ISO Abbreviation: J Neural Transm (Vienna) Subsets: MEDLINE

Bayat, A; Knaus, A; Juul, A; Dukic, D; Gardella, E; Charzewska, A; Clement, E; Hjalgrim, H; Hoffman-Zacharska, D; Horn, D; Horton, R; Hurst, J; Josifova, D; Larsen, L; Lascelles, K; Obersztyn, E; Pagnamenta, A; Pal, D; Pendziwiat, M; Ryten, M; Taylor, J; Vogt, J; Weber, Y; Krawitz, P; Helbig, I; Kini, U; Møller, R; Group, Ddd Study

Bayat, A, Knaus, A, Juul, A W, Dukic, D, Gardella, E, Charzewska, A, Clement, E, Hjalgrim, H, Hoffman-Zacharska, D, Horn, D, Horton, R, Hurst, J A, Josifova, D, Larsen, L H G, Lascelles, K, Obersztyn, E, Pagnamenta, A, Pal, D K, Pendziwiat, M, Ryten, M, Taylor, J, Vogt, J, Weber, Y, Krawitz, P M, Helbig, I, Kini, U, Møller, R S & the DDD Study Group 2019, ' PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor : description of 13 novel patients and expansion of the clinical characteristics ', Genetics in Medicine, vol. 21, no. 10, pp. 2216-2223 . https://doi.org/10.1038/s41436-019-0512-3

Winczewska-Wiktor, Anna ; Hoffman-Zacharska, Dorota ; Starczewska, Monika ; Kaczmarek, Izabela ; Badura-Stronka, Magdalena ; Steinborn, Barbara

In Epilepsy & Behavior May 2020 106

Vollstedt EJ; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.; Madoev H; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.; Aasly A; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.; Ahmad-Annuar A; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Al-Mubarak B; Center for Genomic Medicine, Research Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alcalay RN; Department of Neurology, Columbia University, New York, New York, United States of America.; Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel.; Alvarez V; Laboratório de Genética, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.; Amorin I; Universidad de la Republica Uruguay, Montevideo, Uruguay.; Annesi G; Institute of Biomedical Research and Innovation, National Research Council, Cosenza, Italy.; Arkadir D; Department of Neurology, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel.; Bardien S; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa.; Barker RA; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Barkhuizen M; DST/NWU Preclinical Drug Development Platform, North-West University, Potchefstroom, North-West, South Africa.; Basak AN; Suna and Inan Kiraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.; Bonifati V; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Boon A; Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.; Brighina L; Department of Neurology, Milan Center for Neuroscience, University of Milano-Bicocca/San Gerardo Hospital, Monza, Monza Brianza, Italy.; Brockmann K; Department of Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Baden Wuerttemberg, Germany.; Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases, Tuebingen, Baden Wuerttemberg, Germany.; Carmine Belin A; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Carr J; South African Medical Research Council/Stellenbosch University Genomics of Brain Disorders Research Unit, Stellenbosch University, Cape Town, South Africa.; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Clarimon J; Department of Neurology, Biomedical Research Institute IIB-Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Cornejo-Olivas M; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru.; Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru.; Correia Guedes L; Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.; Instituto de Medicina Molecular João Lobo Antunes, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Corvol JC; Paris Brain Institute-ICM, Inserm, CNRS, Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Neurology, Sorbonne University, Paris, France.; Crosiers D; Department of Neurology, Antwerp University Hospital, Edegem, Belgium.; Translational Neurosciences, Born Bunge Institute, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, Antwerp, Belgium.; Center for Molecular Neurology, VIB, Wilrijk, Antwerp, Belgium.; Damásio J; Department of Neurology, Hospital de Santo António-Centro Hospitalar Universitário do Porto, Porto, Portugal.; UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal.; Das P; Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.; de Carvalho Aguiar P; Hospital Israelita Albert Einstein, São Paulo, Brazil.; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.; De Rosa A; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.; Dorszewska J; Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.; Ertan S; Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey.; Ferese R; IRCCS Neuromed, Localita' Camerelle, Pozzilli, Isernia, Italy.; Ferreira J; Translational Neurosciences, Born Bunge Institute, Faculty of Medicine and Health Sciences, University of Antwerp, Wilrijk, Antwerp, Belgium.; Laboratory of Clinical Pharmacology and Therapeutics, University of Lisbon, Lisbon, Portugal.; Gatto E; Movement Disorders, Department of Neurology, Instituto de Neurosciencias Buenos Aires, Buenos Aires, Argentina.; Genç G; Department of Neurology, University of Health Sciences, Şişli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey.; Giladi N; Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel.; Gómez-Garre P; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Hanagasi H; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Hattori N; Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan.; Hentati F; Mongi Ben Hmida National Institute of Neurology, Tunis, Tunisia.; Hoffman-Zacharska D; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland.; Illarioshkin SN; Department of Neurogenetics, Research Center of Neurology, Moscow, Russia.; Jankovic J; Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, United States of America.; Jesús S; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Kaasinen V; Neurocenter, Turku University Hospital, Turku, Finland.; Department of Neurology, Satasairaala Hospital, Pori, Finland.; Clinical Neurosciences, Faculty of Medicine, University of Turku, Turku, Finland.; Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Klivenyi P; Department of Neurology, University of Szeged, Szeged, Hungary.; Kostic V; Department for Neurodegeneration, Clinic for Neurology UCCS, Medical Faculty, University of Belgrade, Belgrade, Serbia.; Koziorowski D; Department of Neurology, Faculty of Health Science, Medical University in Warsaw, Warsaw, Poland.; Kühn AA; Movement Disorder and Neuromodulation Unit, Charité, Department of Neurology, Campus Mitte, Universitätsmedizin Berlin, Berlin, Germany.; Lang AE; Edmond J. Safra Program in Parkinson's Disease, Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.; Lim SY; Division of Neurology, Department of Medicine, and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Lin CH; Department of Neurology, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.; Lohmann K; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.; Markovic V; Department for Neurodegeneration, Clinic for Neurology UCCS, Medical Faculty, University of Belgrade, Belgrade, Serbia.; Martikainen MH; Neurocenter, Turku University Hospital, Turku, Finland.; Clinical Neurosciences, Faculty of Medicine, University of Turku, Turku, Finland.; Pontificia Universidad Católica Argentina (UCA), Buenos Aires, Argentina.; Mellick G; Griffith Institute for Drug Discovery (GRIDD), School of Environment and Science, Griffith University, Brisbane, Queensland, Australia.; Merello M; Pontificia Universidad Católica Argentina (UCA), Buenos Aires, Argentina.; Sección Movimientos Anormales, Departamento de Neurociencias, Fleni, Buenos Aires, Argentina.; Argentine National Scientific and Technological Research Council (CONICET), Buenos Aires, Argentina.; Milanowski L; Department of Neurology, Faculty of Health Science, Medical University in Warsaw, Warsaw, Poland.; Mir P; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Öztop-Çakmak Ö; Department of Neurology, School of Medicine, Koç University, Istanbul, Turkey.; Pimentel MMG; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.; Pulkes T; Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Rajthevi, Bangkok, Thailand.; Puschmann A; Department of Neurology, Lund University, Lund, Sweden.; Department of Neurology, Skåne University Hospital, Lund, Sweden.; Rogaeva E; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.; Sammler EM; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, United Kingdom.; Molecular and Clinical Medicine, Ninewells Hospital and Medical School, University of Dundee, Dundee, United Kingdom.; Skaalum Petersen M; Centre of Health Science, University of the Faroe Islands, Tórshavn, Faroe Islands.; Department of Occupational Medicine and Public Health, The Faroese Hospital System, Tórshavn, Faroe Islands.; Skorvanek M; Pavol Jozef Šafárik University in Košice, Košice, Slovakia.; Department of Neurology, University Hospital L. Pasteur, Kosice, Slovakia.; Spitz M; Neurology Service, State University of Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil.; Suchowersky O; Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada.; Tan AH; Division of Neurology, Department of Medicine, and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Termsarasab P; Division of Neurology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Rajthevi, Bangkok, Thailand.; Thaler A; Neurological Institute, Tel-Aviv Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel-Aviv University, Tel-Aviv, Israel.; Tumas V; Behavioral and Movement Disorders Section, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.; van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.; Williams-Gray CH; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Wu RM; Department of Neurology, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.; Zhang B; Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.; Zimprich A; Department of Neurology, Medical University, Vienna, Austria.; Solle J; The Michael J. Fox Foundation for Parkinson's Research, New York, NY, United States of America.; Padmanabhan S; The Michael J. Fox Foundation for Parkinson's Research, New York, NY, United States of America.; Klein C; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin; Hümpfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Štěrbová, Katalin; Hammer, Trine Bjørg; Møller, Rikke; Shinde, Deepali; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine; Haucke, Volker; Weber, Yvonne; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; de Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, Sek Won; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter; Jonghe, Peter De; Lemke, Johannes R.; Pal, Deb K.; Serratosa, Jose M.; Spiczak, Sarah Von; Mandl, Kenneth D.

Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001
American Journal of Human Genetics, vol 104, iss 6

Katrine M. Johannesen; Elena Gardella; Alejandra C. Encinas; Anna‐Elina Lehesjoki; Tarja Linnankivi; Michael B. Petersen; Ida Charlotte Bay Lund; Susanne Blichfeldt; Maria J. Miranda; Deb K. Pal; Karine Lascelles; Peter Procopis; Alessandro Orsini; Alice Bonuccelli; Thea Giacomini; Ingo Helbig; Christina D. Fenger; Sanjay M. Sisodiya; Laura Hernandez‐Hernandez; Sundararaman Krithika; Melissa Rumple; Silvia Masnada; Marialuisa Valente; Cristina Cereda; Lucio Giordano; Patrizia Accorsi; Sarah E. Bürki; Margherita Mancardi; Christian Korff; Renzo Guerrini; Sarah von Spiczak; Dorota Hoffman‐Zacharska; Tomasz Mazurczak; Antonietta Coppola; Salvatore Buono; Marilena Vecchi; Michael F. Hammer; Costanza Varesio; Pierangelo Veggiotti; Dennis Lal; Tobias Brünger; Federico Zara; Pasquale Striano; Guido Rubboli; Rikke S. Møller

Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, 'The spectrum of intermediate SCN8A-related epilepsy', Epilepsia, vol. 60, no. 5, pp. 830-844. https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705

Milanowski Ł; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.; Szukało P; Student Scientific Group, Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.; Kowalska M; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.; Sikorska A; Student Scientific Group, Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.; Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.; Koziorowski D; Department of Neurology, Faculty of Health Science, Medical University of Warsaw, 02-091 Warsaw, Poland.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Lipiński P; Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, Warsaw, Poland.; Department of Pediatrics, Bielański Hospital, Warsaw, Poland.; Wójcicka-Kowalczyk K; Department of Neonatology and Neonatal Intensive Care, The Children's Memorial Health Institute, Warsaw, Poland.; Bogdańska A; Department of Clinical Biochemistry, The Children's Memorial Health Institute, Warsaw, Poland.; Ehmke E; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.; Pajdowska M; Masdiag-Diagnostic Mass Spectrometry Laboratory, Warsaw, Poland.; Skrzypek K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Charzewska A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

A. Charzewska; R. Maiwald; K. Kahrizi; B. Oehl‐Jaschkowitz; A. Dufke; J.R. Lemke; H. Enders; H. Najmabadi; A. Tzschach; W. Hachmann; C. Jensen; M. Bienek; J. Poznański; M. Nawara; T. Chilarska; E. Obersztyn; D. Hoffman‐Zacharska; M. Gos; J. Bal; V.M. Kalscheuer

Clinical Genetics: an international journal of genetics in medicine

Paprocka, J.; Kalinowska-Doman, A.; Krygier, M.; Steinborn, B.; Winczewska-Wiktor, A.; Stawicka, E.; Przyslo, L.; Hoffman-Zacharska, D.; Mazurkiewicz, H.; Fabin-Czepiel, K.; Płoski, R.; Bachanski, M.; Mazurkiewicz-Beldzinska, M.

Epilepsia. 65(suppl.1):404 poz.997

Zielińska A; Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.; Skarżyńska U; Department of Organization and Accounts, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.; Górka-Skoczylas P; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.; Mazurczak T; Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.; Kuźniar-Pałka A; Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.; Kanabus K; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.; Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.; Stawicka E; Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

Heyne H. O.; Singh T.; Stamberger H.; Abou Jamra R.; Caglayan H.; Craiu D.; De Jonghe P.; Guerrini R.; Helbig K. L.; Koeleman B. P. C.; Kosmicki J. A.; Linnankivi T.; May P.; Muhle H.; Moller R. S.; Neubauer B. A.; Palotie A.; Pendziwiat M.; Striano P.; Tang S.; Wu S.; Afawi Z.; De Kovel C.; Dimova P.; Djemie T.; Endziniene M.; Hoffman-Zacharska D.; Jahn J.; Korff C.; Lehesjoki A. -E.; Marini C.; Muller S. H.; Pal D.; Schwarz N.; Selmer K.; Serratosa J.; Stephani U.; Sterbova K.; Suls A.; Nishizaki S.; Talvik I.; Von Spiczak S.; Zara F.; Poduri A.; Weber Y. G.; Weckhuysen S.; Sisodiya S. M.; Daly M. J.; Helbig I.; Lal D.; Lemke J. R.

Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053
Nature Genetics
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Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel, C, Dimova, P, Djémié, T, Endziniene, M, Hoffman-Zacharska, D, Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D, Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M, Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7