Gabriel Miltenberger-Miltenyi
AuthID: R-000-VAB
11
TITLE: Impaired Proteostasis Contributes to Renal Tubular Dysgenesis Full Text
AUTHORS: Rita Machado de Oliveira; Zrinka Marijanovic; Filipe Carvalho; Gabriel Miltenberger Miltenyi; Joana Estevao Matos; Sandra Tenreiro; Sonia Oliveira; Francisco Javier Enguita ; Rosario Stone; Tiago Fleming Outeiro;
PUBLISHED: 2011, SOURCE: PLOS ONE, VOLUME: 6, ISSUE: 6
AUTHORS: Rita Machado de Oliveira; Zrinka Marijanovic; Filipe Carvalho; Gabriel Miltenberger Miltenyi; Joana Estevao Matos; Sandra Tenreiro; Sonia Oliveira; Francisco Javier Enguita ; Rosario Stone; Tiago Fleming Outeiro;
PUBLISHED: 2011, SOURCE: PLOS ONE, VOLUME: 6, ISSUE: 6
12
TITLE: Nova mutação na síndroma de QT Longo em doente com diagnóstico prévio de epilepsia
AUTHORS: Cláudia Jorge; João Silva Marques; Arminda Veiga; João Nóbrega; Jorge Cruz; Rita Peralta; Maria José Correia; João de Sousa; Gábriel Miltenberger-Miltényi; António Nunes Diogo;
PUBLISHED: 2011, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 30, ISSUE: 12
AUTHORS: Cláudia Jorge; João Silva Marques; Arminda Veiga; João Nóbrega; Jorge Cruz; Rita Peralta; Maria José Correia; João de Sousa; Gábriel Miltenberger-Miltényi; António Nunes Diogo;
PUBLISHED: 2011, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 30, ISSUE: 12
INDEXED IN: 
CrossRef
CrossRef13
TITLE: Livedoid Vasculopathy Associated with Plasminogen Activator Inhibitor-1 Promoter Homozygosity (4G/4G) and Prothrombin G20210A Heterozygosity: Response to t-PA Therapy Full Text
AUTHORS: Joana Antunes; Paulo Filipe ; Marisa Andre; Ana Fraga; Gabriel Miltenyi; Manuel Marques Gomes;
PUBLISHED: 2010, SOURCE: ACTA DERMATO-VENEREOLOGICA, VOLUME: 90, ISSUE: 1
AUTHORS: Joana Antunes; Paulo Filipe ; Marisa Andre; Ana Fraga; Gabriel Miltenyi; Manuel Marques Gomes;
PUBLISHED: 2010, SOURCE: ACTA DERMATO-VENEREOLOGICA, VOLUME: 90, ISSUE: 1
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TITLE: Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations
AUTHORS: Miltenberger Miltenyi, G; Schwarzbraun, T; Loscher, WN; Wanschitz, J; Windpassinger, C; Duba, HC; Seidl, R; Albrecht, G; Weirich Schwaiger, H; Zoller, H; Utermann, G; Auer Grumbach, M; Janecke, AR;
PUBLISHED: 2009, SOURCE: European Journal of Human Genetics, VOLUME: 17, ISSUE: 9
AUTHORS: Miltenberger Miltenyi, G; Schwarzbraun, T; Loscher, WN; Wanschitz, J; Windpassinger, C; Duba, HC; Seidl, R; Albrecht, G; Weirich Schwaiger, H; Zoller, H; Utermann, G; Auer Grumbach, M; Janecke, AR;
PUBLISHED: 2009, SOURCE: European Journal of Human Genetics, VOLUME: 17, ISSUE: 9
INDEXED IN: 
Scopus
Scopus15
TITLE: Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations Full Text
AUTHORS: Gabriel Miltenberger-Miltenyi; Thomas Schwarzbraun; Wolfgang N Löscher; Julia Wanschitz; Christian Windpassinger; Hans-Christoph Duba; Rainer Seidl; Gerhard Albrecht; Helga Weirich-Schwaiger; Heinz Zoller; Gerd Utermann; Michaela Auer-Grumbach; Andreas R Janecke;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 17, ISSUE: 9
AUTHORS: Gabriel Miltenberger-Miltenyi; Thomas Schwarzbraun; Wolfgang N Löscher; Julia Wanschitz; Christian Windpassinger; Hans-Christoph Duba; Rainer Seidl; Gerhard Albrecht; Helga Weirich-Schwaiger; Heinz Zoller; Gerd Utermann; Michaela Auer-Grumbach; Andreas R Janecke;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 17, ISSUE: 9
INDEXED IN: CrossRef
CrossRef16
TITLE: Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
AUTHORS: Miltenberger Miltenyi, G; Janecke, AR; Wanschitz, JV; Timmerman, V; Windpassinger, C; Auer Grumbach, M; Loscher, WN;
PUBLISHED: 2007, SOURCE: Archives of Neurology, VOLUME: 64, ISSUE: 7
AUTHORS: Miltenberger Miltenyi, G; Janecke, AR; Wanschitz, JV; Timmerman, V; Windpassinger, C; Auer Grumbach, M; Loscher, WN;
PUBLISHED: 2007, SOURCE: Archives of Neurology, VOLUME: 64, ISSUE: 7
INDEXED IN: Scopus
Scopus17
TITLE: Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome Full Text
AUTHORS: Rohkamm, B; Reilly, MM; Lochmuller, H; Schlotter Weigel, B; Barisic, N; Schols, L; Nicholson, G; Pareyson, D; Laura, M; Janecke, AR; Miltenberger Miltenyi, G; John, E; Fischer, C; Grill, F; Wakeling, W; Davis, M; Pieber, TR; Auer Grumbach, M;
PUBLISHED: 2007, SOURCE: Journal of the Neurological Sciences, VOLUME: 263, ISSUE: 1-2
AUTHORS: Rohkamm, B; Reilly, MM; Lochmuller, H; Schlotter Weigel, B; Barisic, N; Schols, L; Nicholson, G; Pareyson, D; Laura, M; Janecke, AR; Miltenberger Miltenyi, G; John, E; Fischer, C; Grill, F; Wakeling, W; Davis, M; Pieber, TR; Auer Grumbach, M;
PUBLISHED: 2007, SOURCE: Journal of the Neurological Sciences, VOLUME: 263, ISSUE: 1-2
INDEXED IN: Scopus CrossRef
Scopus CrossRef18
TITLE: Clinical and Electrophysiological Features in Charcot-Marie-Tooth Disease With Mutations in the NEFL Gene
AUTHORS: Gabriel Miltenberger-Miltenyi; Andreas R Janecke; Julia V Wanschitz; Vincent Timmerman; Christian Windpassinger; Michaela Auer-Grumbach; Wolfgang N Löscher;
PUBLISHED: 2007, SOURCE: Arch Neurol - Archives of Neurology, VOLUME: 64, ISSUE: 7
AUTHORS: Gabriel Miltenberger-Miltenyi; Andreas R Janecke; Julia V Wanschitz; Vincent Timmerman; Christian Windpassinger; Michaela Auer-Grumbach; Wolfgang N Löscher;
PUBLISHED: 2007, SOURCE: Arch Neurol - Archives of Neurology, VOLUME: 64, ISSUE: 7
INDEXED IN: CrossRef
CrossRef19
TITLE: Novel C59T leader peptide mutation in the MPZ gene associated with late‐onset, axonal, sensorimotor polyneuropathy
AUTHORS: Finsterer, J; Miltenberger, G; Rauschka, H; Janecke, A;
PUBLISHED: 2006, SOURCE: European Journal of Neurology, VOLUME: 13, ISSUE: 10
AUTHORS: Finsterer, J; Miltenberger, G; Rauschka, H; Janecke, A;
PUBLISHED: 2006, SOURCE: European Journal of Neurology, VOLUME: 13, ISSUE: 10
20
TITLE: Mutation spectrum of type I glycogen storage disease in Hungary Full Text
AUTHORS: Miltenberger Miltenyi, G; Szonyi, L; Balogh, L; Utermann, G; Janecke, AR;
PUBLISHED: 2005, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 28, ISSUE: 6
AUTHORS: Miltenberger Miltenyi, G; Szonyi, L; Balogh, L; Utermann, G; Janecke, AR;
PUBLISHED: 2005, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 28, ISSUE: 6
INDEXED IN: Scopus
Scopus