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Griechische Klappspiegel
Griechische Klappspiegel
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Griechische Klappspiegel

Wolfgang Züchner

Jahrbuch des Deutschen Archäologischen Instituts. Ergänzungsheft Berlin n. 14, p. [118]-155, 1942

Berlin Walter de Gruyter 1942

Localização: MAE - Museu Arqueologia e Etnologia    (FOL3971 )(Acessar)

2
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
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Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Schmidt, Wolfgang M. ; Rutledge, S. Lane ; Schüle, Rebecca ; Mayerhofer, Benjamin ; Züchner, Stephan ; Boltshauser, Eugen ; Bittner, Reginald E.

American journal of human genetics, 2015-12, Vol.97 (6), p.855-861 [Periódico revisado por pares]

United States: Elsevier Inc

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3
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

Senderek, Jan ; Lassuthova, Petra ; Kabzińska, Dagmara ; Abreu, Lisa ; Baets, Jonathan ; Beetz, Christian ; Braathen, Geir J ; Brenner, David ; Dalton, Joline ; Dankwa, Lois ; Deconinck, Tine ; De Jonghe, Peter ; Dräger, Bianca ; Eggermann, Katja ; Ellis, Melina ; Fischer, Carina ; Stojkovic, Tanya ; Herrmann, David N ; Horvath, Rita ; Høyer, Helle ; Iglseder, Stephan ; Kennerson, Marina ; Kinslechner, Katharina ; Kohler, Jennefer N ; Kurth, Ingo ; Laing, Nigel G ; Lamont, Phillipa J ; Löscher, Wolfgang ; Ludolph, Albert ; Marques, Wilson ; Nicholson, Garth ; Ong, Royston ; Petri, Susanne ; Ravenscroft, Gianina ; Rebelo, Adriana ; Ricci, Giulia ; Rudnik-Schöneborn, Sabine ; Schirmacher, Anja ; Schlotter-Weigel, Beate ; Schoels, Ludger ; Schüle, Rebecca ; Synofzik, Matthis ; Francou, Bruno ; Strom, Tim M ; Wagner, Johannes ; Walk, David ; Wanschitz, Julia ; Weinmann, Daniela ; Weishaupt, Jochen ; Wiessner, Manuela ; Windhager, Reinhard ; Young, Pitt ; Züchner, Stephan ; Toegel, Stefan ; Seeman, Pavel ; Kochański, Andrzej ; Auer-Grumbach, Michaela

Neurology, 2020-12, Vol.95 (24), p.e3163 [Periódico revisado por pares]

United States: American Academy of Neurology

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4
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

ZIMON, Magdalena ; BAETS, Jonathan ; AUER-GRUMBACH, Michaela ; DE RIJK, Peter ; PETERSEN, Britt-Sabina ; MÜLLER, Thomas ; FRANSEN, Erik ; VAN DAMME, Philip ; LÖSCHER, Wolfgang N ; BARISIC, Nina ; MITROVIC, Zoran ; PREVITALI, Stefanoc ; ALMEIDA-SOUZA, Leonardo ; TOPALOGLU, Haluk ; BERNERT, Günther ; BELEZA-MEIRELES, Ana ; TODOROVIC, Slobodanka ; SAVIC-PAVICEVIC, Dusanka ; ISHPEKOVA, Boryana ; LECHNER, Silvia ; PEETERS, Kristien ; OOMS, Tinne ; HAHN, Angelika F ; DE VRIENDT, Els ; ZÜCHNER, Stephan ; TIMMERMAN, Vincent ; VAN DIJCK, Patrick ; RASIC, Vedrana Milic ; JANECKE, Andreasr ; DE JONGHE, Peter ; JORDANOVA, Albena ; NIKODINOVIC, Jelena ; PARMAN, Yesim ; BATTALOGLU, Esra ; MATUR, Zeliha ; GUERGUELTCHEVA, Velina ; TOURNEV, Ivailo

Nature genetics, 2012-10, Vol.44 (10), p.1080-1083 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
Characterization of SLITRK1 variation in obsessive-compulsive disorder
Characterization of SLITRK1 variation in obsessive-compulsive disorder
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Characterization of SLITRK1 variation in obsessive-compulsive disorder

Ozomaro, Uzoezi ; Cai, Guiqing ; Kajiwara, Yuji ; Yoon, Seungtai ; Makarov, Vladimir ; Delorme, Richard ; Betancur, Catalina ; Ruhrmann, Stephan ; Falkai, Peter ; Grabe, Hans Jörgen ; Maier, Wolfgang ; Wagner, Michael ; Lennertz, Leonhard ; Moessner, Rainald ; Murphy, Dennis L ; Buxbaum, Joseph D ; Züchner, Stephan ; Grice, Dorothy E Fontenelle, Leonardo

PloS one, 2013-08, Vol.8 (8), p.e70376-e70376 [Periódico revisado por pares]

United States: Public Library of Science

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6
Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
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Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Senderek, Jan ; Bergmann, Carsten ; Stendel, Claudia ; Kirfel, Jutta ; Verpoorten, Nathalie ; De Jonghe, Peter ; Timmerman, Vincent ; Chrast, Roman ; Verheijen, Mark H.G. ; Lemke, Greg ; Battaloglu, Esra ; Parman, Yesim ; Erdem, Sevim ; Tan, Ersin ; Topaloglu, Haluk ; Hahn, Andreas ; Müller-Felber, Wolfgang ; Rizzuto, Nicolò ; Fabrizi, Gian Maria ; Stuhrmann, Manfred ; Rudnik-Schöneborn, Sabine ; Züchner, Stephan ; Michael Schröder, J. ; Buchheim, Eckhard ; Straub, Volker ; Klepper, Jörg ; Huehne, Kathrin ; Rautenstrauss, Bernd ; Büttner, Reinhard ; Nelis, Eva ; Zerres, Klaus

American journal of human genetics, 2003-11, Vol.73 (5), p.1106-1119 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
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Artigo 		Adicionar ao Meu Espaço

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J ; Dohrn, Maike F ; Laššuthová, Petra ; Kraft, Florian ; Begemann, Matthias ; Dey, Daniela ; Eggermann, Thomas ; Beijer, Danique ; Šoukalová, Jana ; Laura, Matilde ; Rossor, Alexander M ; Mazanec, Radim ; Van Lent, Jonas ; Tomaselli, Pedro J ; Ungelenk, Martin ; Debus, Karlien Y ; Feely, Shawna M E ; Gläser, Dieter ; Jagadeesh, Sujatha ; Martin, Madelena ; Govindaraj, Geeta M ; Singhi, Pratibha ; Baineni, Revanth ; Biswal, Niranjan ; Ibarra-Ramírez, Marisol ; Bonduelle, Maryse ; Gess, Burkhard ; Romero Sánchez, Juan ; Suthar, Renu ; Udani, Vrajesh ; Nalini, Atchayaram ; Unnikrishnan, Gopikrishnan ; Marques, Junior, Wilson ; Mercier, Sandra ; Procaccio, Vincent ; Bris, Céline ; Suresh, Beena ; Reddy, Vaishnavi ; Skorupinska, Mariola ; Bonello-Palot, Nathalie ; Mochel, Fanny ; Dahl, Georg ; Sasidharan, Karthika ; Devassikutty, Fiji M ; Nampoothiri, Sheela ; Rodovalho Doriqui, Maria J ; Müller-Felber, Wolfgang ; Vill, Katharina ; Haack, Tobias B ; Dufke, Andreas ; Abele, Michael ; Stucka, Rolf ; Siddiqi, Saima ; Ullah, Noor ; Spranger, Stephanie ; Chiabrando, Deborah ; Bolgül, Behiye S ; Parman, Yesim ; Seeman, Pavel ; Lampert, Angelika ; Schulz, Jörg B ; Wood, John N ; Cox, James J ; Auer-Grumbach, Michaela ; Timmerman, Vincent ; de Winter, Jonathan ; Themistocleous, Andreas C ; Shy, Michael ; Bennett, David L ; Baets, Jonathan ; Hübner, Christian A ; Leipold, Enrico ; Züchner, Stephan ; Elbracht, Miriam ; Çakar, Arman ; Senderek, Jan ; Hornemann, Thorsten ; Woods, C Geoffrey ; Reilly, Mary M ; Kurth, Ingo

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.4880-4890 [Periódico revisado por pares]

England

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8
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Beijer, Danique ; Fogel, Brent L. ; Beltran, Sergi ; Danzi, Matt C. ; Németh, Andrea H. ; Züchner, Stephan ; Synofzik, Matthis

Cerebellum (London, England), 2024-04, Vol.23 (2), p.391-400 [Periódico revisado por pares]

New York: Springer US

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9
Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia
Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia

Schmidt, Wolfgang M ; Rutledge, S Lane ; Schüle, Rebecca ; Mayerhofer, Benjamin ; Züchner, Stephan ; Boltshauser, Eugen ; Bittner, Reginald E

Cell Press (Elsevier) 2015-12

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10
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Wiessner, Manuela ; Maroofian, Reza ; Ni, Meng-Yuan ; Pedroni, Andrea ; Müller, Juliane S ; Stucka, Rolf ; Beetz, Christian ; Efthymiou, Stephanie ; Santorelli, Filippo M ; Alfares, Ahmed A ; Zhu, Changlian ; Uhrova Meszarosova, Anna ; Alehabib, Elham ; Bakhtiari, Somayeh ; Janecke, Andreas R ; Otero, Maria Gabriela ; Chen, Jin Yun Helen ; Peterson, James T ; Strom, Tim M ; De Jonghe, Peter ; Deconinck, Tine ; De Ridder, Willem ; De Winter, Jonathan ; Pasquariello, Rossella ; Ricca, Ivana ; van de Warrenburg, Bart P ; Portier, Ruben ; Bergmann, Carsten ; Ghasemi Firouzabadi, Saghar ; Jin, Sheng Chih ; Bilguvar, Kaya ; Hamed, Sherifa ; Abdelhameed, Mohammed ; Haridy, Nourelhoda A ; Maqbool, Shazia ; Rahman, Fatima ; Anwar, Najwa ; Carmichael, Jenny ; Pagnamenta, Alistair T ; Wood, Nick W ; Tran Mau-Them, Frederic ; Haack, Tobias ; Di Rocco, Maja ; Ceccherini, Isabella ; Iacomino, Michele ; Zara, Federico ; Salpietro, Vincenzo ; Scala, Marcello ; Rusmini, Marta ; Xu, Yiran ; Wang, Yinghong ; Suzuki, Yasuhiro ; Koh, Kishin ; Nan, Haitian ; Ishiura, Hiroyuki ; Tsuji, Shoji ; Lambert, Laëtitia ; Schmitt, Emmanuelle ; Lacaze, Elodie ; Küpper, Hanna ; Dredge, David ; Skraban, Cara ; Goldstein, Amy ; Willis, Mary J H ; Grand, Katheryn ; Graham, John M ; Millan, Francisca ; Duman, Özgür ; Uyanik, Gökhan ; Schöls, Ludger ; Nürnberg, Peter ; Català-Bordes, Andrea ; Seeman, Pavel ; Kuchar, Martin ; Darvish, Hossein ; Rebelo, Adriana ; Bouçanova, Filipa ; Medard, Jean-Jacques ; Auer-Grumbach, Michaela ; Alkuraya, Fowzan S ; Shamseldin, Hanan ; Al Tala, Saeed ; Rezazadeh Varaghchi, Jamileh ; Najafi, Maryam ; Deschner, Selina ; Gläser, Dieter ; Hüttel, Wolfgang ; Kruer, Michael C ; Kamsteeg, Erik-Jan ; Takiyama, Yoshihisa ; Züchner, Stephan ; Baets, Jonathan ; Synofzik, Matthis ; Schüle, Rebecca ; Horvath, Rita ; Houlden, Henry ; Bartesaghi, Luca ; Lee, Hwei-Jen ; Ampatzis, Konstantinos ; Senderek, Jan

Brain (London, England : 1878), 2021-09, Vol.144 (8), p.e70-e70 [Periódico revisado por pares]

England: Oxford University Press

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Deste Autor:

  1. Züchner, W

Neste Assunto:

  1. Science & Technology
  2. Humans
  3. Life Sciences & Biomedicine
  4. Female
  5. Male

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