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American journal of human genetics, 2023-01, Vol.110 (1), p.105-119
- Rafehi, Haloom
- Read, Justin
- Szmulewicz, David J
- Davies, Kayli C
- Snell, Penny
- Fearnley, Liam G
- Scott, Liam
- Thomsen, Mirja
- Gillies, Greta
- Pope, Kate
- Bennett, Mark F
- Munro, Jacob E
- Ngo, Kathie J
- Chen, Luke
- Wallis, Mathew J
- Butler, Ernest G
- Kumar, Kishore R
- Wu, Kathy Hc
- Tomlinson, Susan E
- Tisch, Stephen
- Malhotra, Abhishek
- Lee-Archer, Matthew
- Dolzhenko, Egor
- Eberle, Michael A
- Roberts, Leslie J
- Fogel, Brent L
- Brüggemann, Norbert
- Lohmann, Katja
- Delatycki, Martin B
- Bahlo, Melanie
- Lockhart, Paul J
2023
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Journal of neurology, 2023-01, Vol.270 (1), p.208-222
2023
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Brain (London, England : 1878), 2014-01, Vol.137 (Pt 1), p.69-77
- SYNOFZIK, Matthis
- GONZALEZ, Michael A
- DURR, Alexandra
- SCHÖLS, Ludger
- LIMA-MARTINEZ, Marcos M
- FAROOQ, Amjad
- SCHÜLE, Rebecca
- STEVANIN, Giovanni
- MARQUES, Wilson
- ZÜCHNER, Stephan
- LOURENCO, Charles Marques
- COUTELIER, Marie
- HAACK, Tobias B
- REBELO, Adriana
- HANNEQUIN, Didier
- STROM, Tim M
- PROKISCH, Holger
- KERNSTOCK, Christoph
2014
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The New England journal of medicine, 2023-01, Vol.388 (2), p.128-141
- Pellerin, David
- Danzi, Matt C.
- Wilke, Carlo
- Renaud, Mathilde
- Fazal, Sarah
- Dicaire, Marie-Josée
- Scriba, Carolin K.
- Ashton, Catherine
- Yanick, Christopher
- Beijer, Danique
- Rebelo, Adriana
- Rocca, Clarissa
- Jaunmuktane, Zane
- Sonnen, Joshua A.
- Larivière, Roxanne
- Genís, David
- Molina Porcel, Laura
- Choquet, Karine
- Sakalla, Rawan
- Provost, Sylvie
- Robertson, Rebecca
- Allard-Chamard, Xavier
- Tétreault, Martine
- Reiling, Sarah J.
- Nagy, Sara
- Nishadham, Vikas
- Purushottam, Meera
- Vengalil, Seena
- Bardhan, Mainak
- Nalini, Atchayaram
- Chen, Zhongbo
- Mathieu, Jean
- Massie, Rami
- Chalk, Colin H.
- Lafontaine, Anne-Louise
- Evoy, François
- Rioux, Marie-France
- Ragoussis, Jiannis
- Boycott, Kym M.
- Dubé, Marie-Pierre
- Duquette, Antoine
- Houlden, Henry
- Ravenscroft, Gianina
- Laing, Nigel G.
- Lamont, Phillipa J.
- Saporta, Mario A.
- Schüle, Rebecca
- Schöls, Ludger
- La Piana, Roberta
- Synofzik, Matthis
- Zuchner, Stephan
- Brais, Bernard
2023
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The New England journal of medicine, 2012-02, Vol.366 (7), p.636-646
2012
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Nature genetics, 2019-04, Vol.51 (4), p.649-658
- Cortese, Andrea
- Simone, Roberto
- Sullivan, Roisin
- Vandrovcova, Jana
- Tariq, Huma
- Yau, Wai Yan
- Humphrey, Jack
- Jaunmuktane, Zane
- Sivakumar, Prasanth
- Polke, James
- Ilyas, Muhammad
- Tribollet, Eloise
- Tomaselli, Pedro J
- Devigili, Grazia
- Callegari, Ilaria
- Versino, Maurizio
- Salpietro, Vincenzo
- Efthymiou, Stephanie
- Kaski, Diego
- Wood, Nick W
- Andrade, Nadja S
- Buglo, Elena
- Rebelo, Adriana
- Rossor, Alexander M
- Bronstein, Adolfo
- Fratta, Pietro
- Marques, Wilson J
- Züchner, Stephan
- Reilly, Mary M
- Houlden, Henry
2019
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European journal of neurology, 2023-12, Vol.30 (12), p.3828-3833
- Iruzubieta, Pablo
- Pellerin, David
- Bergareche, Alberto
- Albajar, Inés
- Mondragón, Elisabet
- Vinagre, Ana
- Fernández‐Torrón, Roberto
- Moreno, Fermín
- Equiza, Jon
- Campo‐Caballero, David
- Poza, Juan José
- Ruibal, Marta
- Formica, Alessandro
- Dicaire, Marie‐Josée
- Danzi, Matt C.
- Zuchner, Stephan
- Croitoru, Ioana
- Ruiz, Montserrat
- Schlüter, Agatha
- Casasnovas, Carlos
- Pujol, Aurora
- Brais, Bernard
- Houlden, Henry
- López de Munain, Adolfo
- Ruiz‐Martínez, Javier
2023
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American journal of human genetics, 2023-07, Vol.110 (7), p.1098-1109
- Cunha, Paulina
- Petit, Emilien
- Coutelier, Marie
- Coarelli, Giulia
- Mariotti, Caterina
- Faber, Jennifer
- Van Gaalen, Judith
- Damasio, Joana
- Fleszar, Zofia
- Tosi, Michele
- Rocca, Clarissa
- De Michele, Giovanna
- Minnerop, Martina
- Ewenczyk, Claire
- Santorelli, Filippo M.
- Heinzmann, Anna
- Bird, Thomas
- Amprosi, Matthias
- Indelicato, Elisabetta
- Benussi, Alberto
- Charles, Perrine
- Stendel, Claudia
- Romano, Silvia
- Scarlato, Marina
- Le Ber, Isabelle
- Bassi, Maria Teresa
- Serrano, Mercedes
- Schmitz-Hübsch, Tanja
- Doss, Sarah
- Van Velzen, Gijs A.J.
- Thomas, Quentin
- Trabacca, Antonio
- Ortigoza-Escobar, Juan Dario
- D'Arrigo, Stefano
- Timmann, Dagmar
- Pantaleoni, Chiara
- Martinuzzi, Andrea
- Besse-Pinot, Elsa
- Marsili, Luca
- Cioffi, Ettore
- Nicita, Francesco
- Giorgetti, Alejandro
- Moroni, Isabella
- Romaniello, Romina
- Casali, Carlo
- Ponger, Penina
- Casari, Giorgio
- De Bot, Susanne T.
- Ristori, Giovanni
- Blumkin, Lubov
- Borroni, Barbara
- Goizet, Cyril
- Marelli, Cecilia
- Boesch, Sylvia
- Anheim, Mathieu
- Filla, Alessandro
- Houlden, Henry
- Bertini, Enrico
- Klopstock, Thomas
- Synofzik, Matthis
- Riant, Florence
- Zanni, Ginevra
- Magri, Stefania
- Di Bella, Daniela
- Nanetti, Lorenzo
- Sequeiros, Jorge
- Oliveira, Jorge
- Van de Warrenburg, Bart
- Schöls, Ludger
- Taroni, Franco
- Brice, Alexis
- Durr, Alexandra
2023
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American journal of human genetics, 2024-01, Vol.111 (1), p.82-95
2024
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Proceedings of the National Academy of Sciences - PNAS, 2022-01, Vol.119 (4), p.1
2022
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Nature (London), 2017-01, Vol.541 (7635), p.87-91
2017
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Movement disorders, 2023-08, Vol.38 (8), p.1575-1577
2023
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Genetics in medicine, 2019-03, Vol.21 (3), p.553-563
- Valence, Stéphanie
- Cochet, Emmanuelle
- Rougeot, Christelle
- Garel, Catherine
- Chantot-Bastaraud, Sandra
- Lainey, Elodie
- Afenjar, Alexandra
- Barthez, Marie-Anne
- Bednarek, Nathalie
- Doummar, Diane
- Faivre, Laurence
- Goizet, Cyril
- Haye, Damien
- Heron, Bénédicte
- Kemlin, Isabelle
- Lacombe, Didier
- Milh, Mathieu
- Moutard, Marie-Laure
- Riant, Florence
- Robin, Stéphanie
- Roubertie, Agathe
- Sarda, Pierre
- Toutain, Annick
- Villard, Laurent
- Ville, Dorothée
- Billette de Villemeur, Thierry
- Rodriguez, Diana
- Burglen, Lydie
2019
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Journal of neurology, neurosurgery and psychiatry, 2024-02, Vol.95 (2), p.175
- Pellerin, David
- Wilke, Carlo
- Traschütz, Andreas
- Nagy, Sara
- Currò, Riccardo
- Dicaire, Marie-Josée
- Garcia-Moreno, Hector
- Anheim, Mathieu
- Wirth, Thomas
- Faber, Jennifer
- Timmann, Dagmar
- Depienne, Christel
- Rujescu, Dan
- Gazulla, José
- Reilly, Mary M
- Giunti, Paola
- Brais, Bernard
- Houlden, Henry
- Schöls, Ludger
- Strupp, Michael
- Cortese, Andrea
- Synofzik, Matthis
2024
Volltextzugriff (PDF)
Handbook of Clinical Neurology, 2018, Vol.155, p.73-89
2018
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International journal of molecular sciences, 2020-05, Vol.21 (11), p.3760
2020
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Genetics in medicine, 2022-10, Vol.24 (10), p.2079-2090
- Tucci, Arianna
- Cipriani, Valentina
- Demidov, German
- Rocca, Clarissa
- Senderek, Jan
- Butryn, Michaela
- Lam, Tanya
- Cali, Elisa
- Vestito, Letizia
- Maroofian, Reza
- Deininger, Natalie
- Rautenberg, Maren
- Admard, Jakob
- Bartels, Claudius
- Horvath, Rita
- Chinnery, Patrick F.
- Tiet, May Yung
- Hewamadduma, Channa
- Tofaris, George K.
- Ambrose, J.C.
- Arumugam, P.
- Baple, E.L.
- Bleda, M.
- Boardman-Pretty, F.
- Boissiere, J.M.
- Boustred, C.R.
- Brittain, H.
- Caulfield, M.J.
- Craig, C.E.H.
- Daugherty, L.C.
- Devereau, A.
- Elgar, G.
- Foulger, R.E.
- Fowler, T.
- Furió-Tarí, P.
- Hackett, J.M.
- Halai, D.
- Hamblin, A.
- Henderson, S.
- Holman, J.E.
- Ibáñez, K.
- Jackson, R.
- Jones, L.J.
- Kasperaviciute, D.
- Kayikci, M.
- Lahnstein, L.
- Lawson, K.
- Leigh, S.E.A.
- Leong, I.U.S.
- Maleady-Crowe, F.
- Mason, J.
- McDonagh, E.M.
- Moutsianas, L.
- Mueller, M.
- Odhams, C.A.
- Patch, C.
- Perez-Gil, D.
- Pullinger, J.
- Rahim, T.
- Riesgo-Ferreiro, P.
- Rogers, T.
- Ryten, M.
- Sawant, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smedley, D.
- Smith, K.R.
- Spooner, W.
- Stevens, H.E.
- Stuckey, A.
- Sultana, R.
- Thomas, E.R.A.
- Tucci, A.
- Watters, S.A.
- Welland, M.J.
- Williams, E.
- Zarowiecki, M.
- Wood, Nicholas W.
- Hayer, Stefanie N.
- Bender, Friedemann
- Menden, Benita
- Cordts, Isabell
- Klein, Katrin
- Krauss, Joachim K.
- Blahak, Christian
- Strom, Tim M.
- Sturm, Marc
- van de Warrenburg, Bart
- Lerche, Holger
- Maček, Boris
- Ossowski, Stephan
- Timmann, Dagmar
- Wolf, Marc E.
- Smedley, Damian
- Riess, Olaf
- Schöls, Ludger
- Houlden, Henry
- Haack, Tobias B.
- Hengel, Holger
2022
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PLoS genetics, 2009-05, Vol.5 (5), p.e1000487-e1000487
2009
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Genetics in medicine, 2023-02, Vol.25 (2), p.100327-100327, Article 100327
- Barbier, Mathieu
- Davoine, Claire-Sophie
- Petit, Emilien
- Porché, Maximilien
- Guillot-Noel, Léna
- Sayah, Sabrina
- Fauret, Anne-Laure
- Neau, Jean-Philippe
- Guyant-Maréchal, Lucie
- Deffond, Didier
- Tranchant, Christine
- Goizet, Cyril
- Coarelli, Giulia
- Castrioto, Anna
- Klebe, Stephan
- Ewenczyk, Claire
- Heinzmann, Anna
- Charles, Perrine
- Tchikviladzé, Maya
- Van Broeckhoven, Christine
- Brice, Alexis
- Durr, Alexandra
2023
Volltextzugriff (PDF)
Scientific reports, 2023-06, Vol.13 (1), p.9737-9737, Article 9737
- Bonnet, Céline
- Pellerin, David
- Roth, Virginie
- Clément, Guillemette
- Wandzel, Marion
- Lambert, Laëtitia
- Frismand, Solène
- Douarinou, Marian
- Grosset, Anais
- Bekkour, Ines
- Weber, Frédéric
- Girardier, Florent
- Robin, Clément
- Cacciatore, Stéphanie
- Bronner, Myriam
- Pourié, Carine
- Dreumont, Natacha
- Puisieux, Salomé
- Iruzubieta, Pablo
- Dicaire, Marie-Josée
- Evoy, François
- Rioux, Marie-France
- Hocquel, Armand
- La Piana, Roberta
- Synofzik, Matthis
- Houlden, Henry
- Danzi, Matt C
- Zuchner, Stephan
- Brais, Bernard
- Renaud, Mathilde
2023
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Nervenarzt, 2021-04, Vol.92 (4), p.379-389
2021
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Movement disorders, 2023-04, Vol.38 (4), p.665-675
2023
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Clinical genetics, 2024-04, Vol.105 (4), p.446-452
2024
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Movement disorders, 2022-06, Vol.37 (6), p.1309-1316
- Costa, Sophia Caldas Gonzaga
- Rezende‐Filho, Flávio c
- Freitas, Júlian Leticia
- Assis Pereira Matos, Paula Camila Alves
- Della‐Ripa, Bruno
- França, Marcondes Cavalcante
- Marques, Wilson
- Santos, Mariana
- Cronemberger, Igor Vasconcelos Barros
- Vale, Thiago Cardoso
- Kok, Fernando
- Alonso, Isabel
- Pedroso, José Luiz
- Barsottini, Orlando G.P.
2022
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Current opinion in neurology, 2020-02, Vol.33 (1), p.150
2020
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