ProfileOfResearchers

TITLE: AFM based-force spectroscopy as a functional diagnostic nanotool for hematological diseases Full Text
AUTHORS: Carvalho, FA; Tavares, A; Teodoro, M; Miltenberger Miltenyi, G; Santos, NC ;
PUBLISHED: 2013, SOURCE: 9th European-Biophysical-Societies-Association Congress in EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS, VOLUME: 42

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TITLE: Phenotypic variability of familial and sporadic progranulin p.Gln257ProfsX27 mutation Full Text
AUTHORS: Pires, C; Coelho, M; Valadas, A; Barroso, C; Miltenberger Miltenyi, G; Pimentel, J; Duyckaerts, C; de Mendonca, A; Verdelho, A;
PUBLISHED: 2013, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 260

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TITLE: Double hit for the neurons: the coexistence of a novel presenilin 2 mutation and a huntingtin gene CAG repeat expansion Full Text
AUTHORS: Remenyi, V; Miltenberger Miltenyi, G; Nyiro, G; Kovacs, T; Molnar, MJ;
PUBLISHED: 2012, SOURCE: 22nd Meeting of the European-Neurological-Society in JOURNAL OF NEUROLOGY, VOLUME: 259

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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

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Scopus

WOS

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

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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

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WOS

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

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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

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CrossRef

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

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Scopus

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

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