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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 7
2020
Stendel, Claudia; D'Adamo, Maria Cristina; Wiessner, Manuela; Dusl, Marina; Cenciarini, Marta; Belia, Silvia; Nematian-Ardestani, Ehsan; Bauer, Peter; Senderek, Jan; Klopstock, Thomas und Pessia, Mauro
(2020):
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
In: International Journal of Molecular Sciences, Bd. 21, Nr. 11, 3810
[PDF, 2MB]
2019
Cruz, Pedro M. Rodriguez; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Liu, Wei Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Reed, Umbertina Conti; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Topf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline und Beeson, David
(2019):
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
In: Brain, Bd. 142: S. 1547-1560
Dusl, Marina; Moreno, Teresa; Muneii, Francina; Macaya, Alfons; Gratacos, Margarida; Abicht, Angela; Strom, Tim M.; Lochmuller, Hanns und Senderek, Jan
(2019):
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
In: Journal of Neurology, Bd. 266, Nr. 5: S. 1107-1112
Bartesaghi, Luca; Wang, Yiqiao; Fontanet, Paula; Wanderoy, Simone; Berger, Finja; Wu, Haohao; Akkuratova, Natalia; Boucanova, Filipa; Medard, Jean-Jacques; Petitpre, Charles; Landy, Mark A.; Zhang, Ming-Dong; Harrer, Philip; Stendel, Claudia; Stucka, Rolf; Dusl, Marina; Kastriti, Maria Eleni; Croci, Laura; Lai, Helen C.; Consalez, Gian Giacomo; Pattyn, Alexandre; Ernfors, Patrik; Senderek, Jan; Adameyko, Igor; Lallemend, Francois; Hadjab, Saida und Chrast, Roman
(2019):
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
In: Cell Reports, Bd. 26, Nr. 13
2018
Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten und Senderek, Jan
(2018):
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
In: EMBO Journal, Bd. 37, Nr. 23, e100540
McMacken, Grace; Whittaker, Roger G.; Evangelista, Teresinha; Abicht, Angela; Dusl, Marina und Lochmüller, Hanns
(2018):
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
In: Journal of Neurology, Bd. 265, Nr. 1: S. 194-203
2017
Dijk, Tessa van; Rudnik-Schöneborn, Sabine; Senderek, Jan; Hajmousa, Ghazaleh; Mei, Hailiang; Dusl, Marina; Aronica, Eleonora; Barth, Peter und Baas, Frank
(2017):
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
In: Brain, Bd. 140, e46