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Wyszukujesz frazę ""Strom, Tim M."" wg kryterium: Autor


Tytuł:
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke
Autorzy:
Greisenegger, Elli KatharineAff1, Aff2
Llufriu, Sara
Chamorro, AngelAff4, Aff5
Cervera, Alvaro
Jimenez-Escrig, Adriano
Rappersberger, Klemens
Marik, Wolfgang
Greisenegger, Stefan
Stögmann, Elisabeth
Kopp, Tamara
Strom, Tim M.Aff11, Aff12
Henes, Jörg
Joutel, Anne
Zimprich, Alexander
Pokaż więcej
Źródło:
Journal of Neurology. 268(3):810-816
Czasopismo naukowe
Tytuł:
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
Autorzy:
Iuso, ArcangelaAff13, Aff14
Alhaddad, Bader
Weigel, Corina
Kotzaeridou, Urania
Mastantuono, ElisaAff13, Aff14
Schwarzmayr, Thomas
Graf, Elisabeth
Terrile, Caterina
Prokisch, HolgerAff13, Aff14
Strom, Tim M.Aff13, Aff14
Hoffmann, Georg F.
Meitinger, ThomasAff13, Aff14
Haack, Tobias B.Aff13, Aff17
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Źródło:
JIMD Reports, Volume 44. 44:1-7
Książka elektroniczna
Tytuł:
Monogenic variants in dystonia: an exome-wide sequencing study
Autorzy:
Zech, Michael
Jech, Robert
Boesch, Sylvia
Škorvánek, Matej
Weber, Sandrina
Wagner, Matias
Zhao, Chen
Jochim, Angela
Necpál, Ján
Dincer, Yasemin
Vill, Katharina
Distelmaier, Felix
Stoklosa, Malgorzata
Krenn, Martin
Grunwald, Stephan
Bock-Bierbaum, Tobias
Fečíková, Anna
Havránková, Petra
Roth, Jan
Příhodová, Iva
Adamovičová, Miriam
Ulmanová, Olga
Bechyně, Karel
Danhofer, Pavlína
Veselý, Branislav
Haň, Vladimír
Pavelekova, Petra
Gdovinová, Zuzana
Mantel, Tobias
Meindl, Tobias
Sitzberger, Alexandra
Schröder, Sebastian
Blaschek, Astrid
Roser, Timo
Bonfert, Michaela V
Haberlandt, Edda
Plecko, Barbara
Leineweber, Birgit
Berweck, Steffen
Herberhold, Thomas
Langguth, Berthold
Švantnerová, Jana
Minár, Michal
Ramos-Rivera, Gonzalo Alonso
Wojcik, Monica H
Pajusalu, Sander
Õunap, Katrin
Schatz, Ulrich A
Pölsler, Laura
Milenkovic, Ivan
Laccone, Franco
Pilshofer, Veronika
Colombo, Roberto
Patzer, Steffi
Iuso, Arcangela
Vera, Julia
Troncoso, Monica
Fang, Fang
Prokisch, Holger
Wilbert, Friederike
Eckenweiler, Matthias
Graf, Elisabeth
Westphal, Dominik S
Riedhammer, Korbinian M
Brunet, Theresa
Alhaddad, Bader
Berutti, Riccardo
Strom, Tim M
Hecht, Martin
Baumann, Matthias
Wolf, Marc
Telegrafi, Aida
Person, Richard E
Zamora, Francisca Millan
Henderson, Lindsay B
Weise, David
Musacchio, Thomas
Volkmann, Jens
Szuto, Anna
Becker, Jessica
Cremer, Kirsten
Sycha, Thomas
Zimprich, Fritz
Kraus, Verena
Makowski, Christine
Gonzalez-Alegre, Pedro
Bardakjian, Tanya M
Ozelius, Laurie J
Vetro, Annalisa
Guerrini, Renzo
Maier, Esther
Borggraefe, Ingo
Kuster, Alice
Wortmann, Saskia B
Hackenberg, Annette
Steinfeld, Robert
Assmann, Birgit
Staufner, Christian
Opladen, Thomas
Růžička, Evžen
Cohn, Ronald D
Dyment, David
Chung, Wendy K
Engels, Hartmut
Ceballos-Baumann, Andres
Ploski, Rafal
Daumke, Oliver
Haslinger, Bernhard
Mall, Volker
Oexle, Konrad
Winkelmann, Juliane
Pokaż więcej
Źródło:
In The Lancet Neurology November 2020 19(11):908-918
Czasopismo naukowe
Tytuł:
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Autorzy:
Logullo, Francesco O.
Simone, Isabella
Logroscino, Giancarlo
Salvi, Fabrizio
Bartolomei, Ilaria
Borghero, Giuseppe
Murru, Maria Rita
Costantino, Emanuela
Pani, Carla
Puddu, Roberta
Caredda, Carla
Piras, Valeria
Tranquilli, Stefania
Cuccu, Stefania
Corongiu, Daniela
Melis, Maurizio
Milia, Antonio
Marrosu, Francesco
Marrosu, Maria Giovanna
Floris, Gianluca
Cannas, Antonino
Capasso, Margherita
Caponnetto, Claudia
Mancardi, Gianluigi
Origone, Paola
Mandich, Paola
Conforti, Francesca L.
Cavallaro, Sebastiano
Mora, Gabriele
Marinou, Kalliopi
Sideri, Riccardo
Penco, Silvana
Mosca, Lorena
Lunetta, Christian
Pinter, Giuseppe Lauria
Corbo, Massimo
Riva, Nilo
Carrera, Paola
Volanti, Paolo
Mandrioli, Jessica
Fini, Nicola
Fasano, Antonio
Tremolizzo, Lucio
Arosio, Alessandro
Ferrarese, Carlo
Trojsi, Francesca
Tedeschi, Gioacchino
Monsurrò, Maria Rosaria
Piccirillo, Giovanni
Femiano, Cinzia
Ticca, Anna
Ortu, Enzo
La Bella, Vincenzo
Spataro, Rossella
Colletti, Tiziana
Sabatelli, Mario
Zollino, Marcella
Conte, Amelia
Luigetti, Marco
Lattante, Serena
Marangi, Giuseppe
Santarelli, Marialuisa
Petrucci, Antonio
Pugliatti, Maura
Pirisi, Angelo
Parish, Leslie D.
Occhineri, Patrizia
Giannini, Fabio
Battistini, Stefania
Ricci, Claudia
Benigni, Michele
Cau, Tea B.
Loi, Daniela
Calvo, Andrea
Moglia, Cristina
Brunetti, Maura
Barberis, Marco
Restagno, Gabriella
Casale, Federico
Marrali, Giuseppe
Fuda, Giuseppe
Ossola, Irene
Cammarosano, Stefania
Canosa, Antonio
Ilardi, Antonio
Manera, Umberto
Grassano, Maurizio
Tanel, Raffaella
Pisano, Fabrizio
Harms, Matthew B.
Goldstein, David B.
Shneider, Neil A.
Goutman, Stephen
Simmons, Zachary
Miller, Timothy M.
Chandran, Siddharthan
Pal, Suvankar
Manousakis, Georgios
Appel, Stanley H.
Simpson, Ericka
Wang, Leo
Baloh, Robert H.
Gibson, Summer
Bedlack, Richard
Lacomis, David
Sareen, Dhruv
Sherman, Alexander
Bruijn, Lucie
Penny, Michelle
Allen, Andrew S.
Appel, Stanley
Bedlack, Richard S.
Boone, Braden E.
Brown, Robert
Carulli, John P.
Chesi, Alessandra
Chung, Wendy K.
Cirulli, Elizabeth T.
Cooper, Gregory M.
Couthouis, Julien
Day-Williams, Aaron G.
Dion, Patrick A.
Gitler, Aaron D.
Glass, Jonathan D.
Han, Yujun
Harris, Tim
Hayes, Sebastian D.
Jones, Angela L.
Keebler, Jonathan
Krueger, Brian J.
Lasseigne, Brittany N.
Levy, Shawn E.
Lu, Yi-Fan
Maniatis, Tom
McKenna-Yasek, Diane
Myers, Richard M.
Petrovski, Slavé
Pulst, Stefan M.
Raphael, Alya R.
Ravits, John M.
Ren, Zhong
Rouleau, Guy A.
Sapp, Peter C.
Sims, Katherine B.
Staropoli, John F.
Waite, Lindsay L.
Wang, Quanli
Wimbish, Jack R.
Xin, Winnie W.
Phatnani, Hemali
Kwan, Justin
Broach, James R.
Arcila-Londono, Ximena
Lee, Edward B.
Van Deerlin, Vivianna M.
Fraenkel, Ernest
Ostrow, Lyle W.
Baas, Frank
Zaitlen, Noah
Berry, James D.
Malaspina, Andrea
Fratta, Pietro
Cox, Gregory A.
Thompson, Leslie M.
Finkbeiner, Steve
Dardiotis, Efthimios
Hornstein, Eran
MacGowan, Daniel J.
Heiman-Patterson, Terry
Hammell, Molly G.
Patsopoulos, Nikolaos A.
Dubnau, Joshua
Nath, Avindra
Kaye, Julia
Finkbeiner, Steven
Wyman, Stacia
LeNail, Alexander
Lima, Leandro
Rothstein, Jeffrey D.
Svendsen, Clive N.
Van Eyk, Jenny
Maragakis, Nicholas J.
Kolb, Stephen J.
Cudkowicz, Merit
Baxi, Emily
Benatar, Michael
Taylor, J. Paul
Wu, Gang
Rampersaud, Evadnie
Wuu, Joanne
Rademakers, Rosa
Züchner, Stephan
Schule, Rebecca
McCauley, Jacob
Hussain, Sumaira
Cooley, Anne
Wallace, Marielle
Clayman, Christine
Barohn, Richard
Statland, Jeffrey
Ravits, John
Swenson, Andrea
Jackson, Carlayne
Trivedi, Jaya
Khan, Shaida
Katz, Jonathan
Jenkins, Liberty
Burns, Ted
Gwathmey, Kelly
Caress, James
McMillan, Corey
Elman, Lauren
Pioro, Erik
Heckmann, Jeannine
So, Yuen
Walk, David
Maiser, Samuel
Zhang, Jinghui
Silani, Vincenzo
Ticozzi, Nicola
Gellera, Cinzia
Ratti, Antonia
Taroni, Franco
Lauria, Giuseppe
Verde, Federico
Fogh, Isabella
Tiloca, Cinzia
Comi, Giacomo P.
Sorarù, Gianni
Cereda, Cristina
D’Alfonso, Sandra
Corrado, Lucia
De Marchi, Fabiola
Corti, Stefania
Ceroni, Mauro
Mazzini, Letizia
Siciliano, Gabriele
Filosto, Massimiliano
Inghilleri, Maurizio
Peverelli, Silvia
Colombrita, Claudia
Poletti, Barbara
Maderna, Luca
Del Bo, Roberto
Gagliardi, Stella
Querin, Giorgia
Bertolin, Cinzia
Pensato, Viviana
Castellotti, Barbara
Camu, William
Mouzat, Kevin
Lumbroso, Serge
Corcia, Philippe
Meininger, Vincent
Besson, Gérard
Lagrange, Emmeline
Clavelou, Pierre
Guy, Nathalie
Couratier, Philippe
Vourch, Patrick
Danel, Véronique
Bernard, Emilien
Lemasson, Gwendal
Al Kheifat, Ahmad
Al-Chalabi, Ammar
Andersen, Peter
Basak, A. Nazli
Blair, Ian P.
Chio, Adriano
Cooper-Knock, Jonathan
de Carvalho, Mamede
Dekker, Annelot
Drory, Vivian
Redondo, Alberto Garcia
Gotkine, Marc
Hardiman, Orla
Hide, Winston
Iacoangeli, Alfredo
Glass, Jonathan
Kenna, Kevin
Kiernan, Matthew
Kooyman, Maarten
Landers, John
McLaughlin, Russell
Middelkoop, Bas
Mill, Jonathan
Neto, Miguel Mitne
Moisse, Mattieu
Pardina, Jesus Mora
Morrison, Karen
Newhouse, Stephen
Pinto, Susana
Pulit, Sara
Robberecht, Wim
Shatunov, Aleksey
Shaw, Pamela
Shaw, Chris
Sproviero, William
Tazelaar, Gijs
van Damme, Philip
van den Berg, Leonard
van der Spek, Rick
van Eijk, Kristel
van Es, Michael
van Rheenen, Wouter
van Vugt, Joke
Veldink, Jan
Weber, Markus
Williams, Kelly L.
Zatz, Mayana
Bauer, Denis C.
Twine, Natalie A.
Nicolas, Aude
Kenna, Kevin P.
Renton, Alan E.
Faghri, Faraz
Chia, Ruth
Dominov, Janice A.
Kenna, Brendan J.
Nalls, Mike A.
Keagle, Pamela
Rivera, Alberto M.
Murphy, Natalie A.
van Vugt, Joke J.F.A.
Geiger, Joshua T.
Van der Spek, Rick A.
Pliner, Hannah A.
Shankaracharya
Smith, Bradley N.
Topp, Simon D.
Abramzon, Yevgeniya
Gkazi, Athina Soragia
Eicher, John D.
Kenna, Aoife
Messina, Sonia
Simone, Isabella L.
Ferrucci, Luigi
Moreno, Cristiane de Araujo Martins
Kamalakaran, Sitharthan
Musunuri, Rajeeva Lochan
Evani, Uday Shankar
Abhyankar, Avinash
Zody, Michael C.
Wyman, Stacia K.
LeNail, Alex
Van Eyk, Jennifer E.
Laaksovirta, Hannu
Myllykangas, Liisa
Jansson, Lilja
Valori, Miko
Ealing, John
Hamdalla, Hisham
Rollinson, Sara
Pickering-Brown, Stuart
Orrell, Richard W.
Sidle, Katie C.
Hardy, John
Singleton, Andrew B.
Johnson, Janel O.
Arepalli, Sampath
Polak, Meraida
Asress, Seneshaw
Al-Sarraj, Safa
King, Andrew
Troakes, Claire
Vance, Caroline
de Belleroche, Jacqueline
ten Asbroek, Anneloor L.M.A.
Muñoz-Blanco, José Luis
Hernandez, Dena G.
Ding, Jinhui
Gibbs, J. Raphael
Scholz, Sonja W.
Floeter, Mary Kay
Campbell, Roy H.
Landi, Francesco
Bowser, Robert
MacGowan, Daniel J.L.
Kirby, Janine
Pioro, Erik P.
Pamphlett, Roger
Broach, James
Gerhard, Glenn
Dunckley, Travis L.
Brady, Christopher B.
Kowall, Neil W.
Troncoso, Juan C.
Le Ber, Isabelle
Heiman-Patterson, Terry D.
Kamel, Freya
Van Den Bosch, Ludo
Strom, Tim M.
Meitinger, Thomas
Van Eijk, Kristel R.
Moisse, Matthieu
McLaughlin, Russell L.
Van Es, Michael A.
Boylan, Kevin B.
Van Blitterswijk, Marka
Morrison, Karen E.
Mora, Jesús S.
Drory, Vivian E.
Shaw, Pamela J.
Turner, Martin R.
Talbot, Kevin
Fifita, Jennifer A.
Nicholson, Garth A.
Esteban-Pérez, Jesús
García-Redondo, Alberto
Rogaeva, Ekaterina
Zinman, Lorne
Cooper-Knock, Johnathan
Brice, Alexis
Goutman, Stephen A.
Feldman, Eva L.
Gibson, Summer B.
Van Damme, Philip
Ludolph, Albert C.
Andersen, Peter M.
Weishaupt, Jochen H.
Trojanowski, John Q.
Brown, Robert H., Jr.
van den Berg, Leonard H.
Veldink, Jan H.
Stone, David J.
Tienari, Pentti
Chiò, Adriano
Shaw, Christopher E.
Traynor, Bryan J.
Landers, John E.
Pokaż więcej
Źródło:
In Neuron 21 March 2018 97(6):1267-1288
Czasopismo naukowe
Czasopismo naukowe
Tytuł:
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum
Autorzy:
Krenn, Martin
Salzer, ElisabethAff2, Aff3
Simonitsch-Klupp, Ingrid
Rath, Jakob
Wagner, MatiasAff5, Aff6, Aff7
Haack, Tobias B.Aff5, Aff8
Strom, Tim M.Aff5, Aff7
Schänzer, Anne
Kilimann, Manfred W.Aff10, Aff11
Schmidt, Ralf L. J.
Schmetterer, Klaus G.
Zimprich, Alexander
Boztug, KaanAff2, Aff3, Aff13, Aff14
Hahn, Andreas
Zimprich, Fritz
Pokaż więcej
Źródło:
Journal of Neurology. 265(2):394-401
Czasopismo naukowe
Tytuł:
Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes
Autorzy:
Umair, Muhammad
Seidel, Heide
Ahmed, Ishtiaq
Ullah, Asmat
Haack, Tobias B.
Alhaddad, Bader
Jan, Abid
Rafique, Afzal
Strom, Tim M.
Ahmad, Farooq
Meitinger, Thomas
Ahmad, Wasim
Pokaż więcej
Źródło:
Journal of Genetics: Published by the Indian Academy of Sciences. :1-10
Czasopismo naukowe

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