Miltenberger–Miltenyi, Gabriel : rechercher sur Z-Library

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1

Chorea-acanthocytosis presenting as motor neuron disease

Dulce Neutel, Gabriel Miltenberger-Miltenyi, Ines Silva, Mamede de Carvalho

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2012

2

Screening for Fabry disease in patients with left ventricular noncompaction

Azevedo, Olga, Marques, Nuno, Craveiro, Nuno, Pereira, Ana Rita, Antunes, Hugo, Reis, Liliana, Guerreiro, Rui Azevedo, Pontes dos Santos, Rui, Miltenberger-Miltenyi, Gabriel, Sousa, Nuno, Cunha, DamiÃ

Journal:

Revista Portuguesa de Cardiologia (English Edition)

Année:

2019

Fichier:

PDF, 375 KB

2019

3

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

Dulce Brito, Gabriel Miltenberger-Miltenyi, Sónia Vale Pereira, Doroteia Silva, António Nunes Diogo, Hugo Madeira

Journal:

Revista Portuguesa de Cardiologia (English Edition)

Année:

2012

Fichier:

PDF, 289 KB

2012

4

Novel mutation in the KCNH2 gene associated with long QT syndrome

Silva, Doroteia, Miltenberger-Miltenyi, Gabriel, Correia, Maria José, Diogo, António Nunes

Journal:

Revista Portuguesa de Cardiologia (English Edition)

Année:

2013

Langue:

english

Fichier:

PDF, 796 KB

english, 2013

5

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

Gabriel Miltenberger-Miltenyi, Franco Laccone

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 188 KB

english, 2003

6

Endstage renal failure in diabetes type II - a silent epidemic

Eberhard RITZ, Gabriel MILTENBERGER-MILTENGER-MILTENYI, Ivan RYCHLIK, Danilo FLISER

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 371 KB

english, 1998

7

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga,

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 373 KB

english, 2009

8

Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes

Adam Andreasson, Luqman Sulaiman, Sónia do Vale, João Martin Martins, Florbela Ferreira, Gabriel Miltenberger-Miltenyi, Lucas Batista, Felix Haglund, Erik Björck, Inga-Lena Nilsson, Anders Höög, Catha

Journal:

Familial Cancer

Année:

2012

Langue:

english

Fichier:

PDF, 594 KB

english, 2012

9

Hypertrophic cardiomyopathy or non-compaction? How the first impression can be wrong

Cláudia Jorge, João Silva Marques, Gábriel Miltenberger-Miltényi, Fausto J. Pinto

Journal:

International Journal of Cardiology

Année:

2012

Langue:

english

Fichier:

PDF, 375 KB

english, 2012

10

Atomic Force Microscopy-Based Molecular Recognition of a Fibrinogen Receptor on Human Erythrocytes

Carvalho, Filomena A., Connell, Simon, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia Vale, Tavares, Alice, Ariëns, Robert A. S., Santos, Nuno C.

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 3.92 MB

english, 2010

11

Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy

Cláudia Jorge, João Silva Marques, João Nóbrega, Arminda Veiga, Maria José Correia, António Nunes Diogo, Jorge Cruz, Rita Peralta, Gábriel Miltenberger-Miltényi

Journal:

Revista Portuguesa de Cardiologia (English Edition)

Année:

2011

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2011

12

Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone

Laëtitia Michou, Natércia Conceição, Jean Morissette, Edith Gagnon, Gabriel Miltenberger-Miltenyi, Ethel S. Siris, Jacques P. Brown, M. Leonor Cancela

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 612 KB

english, 2012

13

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31

Matthias Rindermann, Ekkehard Grünig, Albrecht von Hippel, Rolf Koehler, Gabriel Miltenberger-Miltenyi, Derliz Mereles, Karlin Arnold, Michael Pauciulo, William Nichols, Horst Olschewski, Marius M Hoe

Journal:

Journal of the American College of Cardiology

Année:

2003

Langue:

english

Fichier:

PDF, 206 KB

english, 2003

14

Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation—Case report and review of literature

Madruga Dias, João A.C., Rosa, Rita S., Perpétuo, Inês, Rodrigues, Ana M., Janeiro, André, Costa, Maria M., Gaião, Luís, Pereira da Silva, José A., Fonseca, João E., Miltenberger-Miltenyi, Gabriel

Journal:

Seminars in Arthritis and Rheumatism

Année:

2014

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2014

15

Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up

Brito, Dulce, Miltenberger–Miltenyi, Gabriel, Moldovan, Oana, Navarro, Carmen, Madeira, Hugo Costa

Journal:

Revista Portuguesa de Cardiologia

Année:

2014

Langue:

english

Fichier:

PDF, 2.23 MB

english, 2014

16

Identification of the Fibrinogen Receptor on Human Erythrocyte by AFM-Based Force Spectroscopy

Carvalho, Filomena A., Connell, Simon, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia V., Tavares, Alice, Ariëns, Robert A.S., Santos, Nuno C.

Journal:

Biophysical Journal

Année:

2011

Langue:

english

Fichier:

PDF, 67 KB

english, 2011

17

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

Brito, Dulce, Miltenberger-Miltenyi, Gabriel, Vale Pereira, Sónia, Silva, Doroteia, Diogo, António Nunes, Madeira, Hugo

Journal:

Revista Portuguesa de Cardiologia

Année:

2012

Fichier:

PDF, 281 KB

2012

18

Novel mutation in the KCNH2 gene associated with long QT syndrome

Silva, Doroteia, Miltenberger-Miltenyi, Gabriel, Correia, Maria José, Diogo, António Nunes

Journal:

Revista Portuguesa de Cardiologia

Année:

2013

Langue:

english

Fichier:

PDF, 829 KB

english, 2013

19

Nova mutação na síndroma de QT Longo em doente com diagnóstico prévio de epilepsia

Jorge, Cláudia, Marques, João Silva, Veiga, Arminda, Nóbrega, João, Cruz, Jorge, Peralta, Rita, Correia, Maria José, de Sousa, João, Miltenberger-Miltényi, Gábriel, Nunes Diogo, António

Journal:

Revista Portuguesa de Cardiologia

Année:

2011

Fichier:

PDF, 1.01 MB

2011

20

Rare finding in early-onset dementia: Description of a patient with a novel PSEN2 mutation harbouring pathogenic huntingtin allele

Kovacs, Tibor, Remenyi, Viktoria, Molnar, Maria Judit, Tegze, Narcisz, Miltenberger-Miltenyi, Gabriel

Journal:

Alzheimer's & Dementia

Année:

2012

Langue:

english

Fichier:

PDF, 152 KB

english, 2012

21

Genetic polymorphisms of proangiogenic factors seem to favor hepatocellular carcinoma development in alcoholic cirrhosis

Machado, Mariana V., Janeiro, André, Miltenberger-Miltenyi, Gabriel, Cortez-Pinto, Helena

Journal:

European Journal of Gastroenterology & Hepatology

Année:

2014

Langue:

english

Fichier:

PDF, 328 KB

english, 2014

22

Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation

Cardoso, Bruno Miguel, Dupont, Juliette, Castanhinha, Susana, Ejarque-Albuquerque, Margarida, Pereira, Sónia, Miltenberger-Miltenyi, Gabriel, Oliveira, Graça

Journal:

Clinical Dysmorphology

Année:

2010

Langue:

english

Fichier:

PDF, 85 KB

english, 2010

23

Primary Pulmonary Hypertension in Children May Have a Different Genetic Background Than in Adults

Grünig, Ekkehard, Koehler, Rolf, Miltenberger-Miltenyi, Gabriel, Zimmermann, Rainer, Gorenflo, Matthias, Mereles, Derliz, Arnold, Karlin, Naust, Barbara, Wilkens, Heinrike, Benz, Andreas, von Hippel,

Journal:

Pediatric Research

Année:

2004

Langue:

english

Fichier:

PDF, 301 KB

english, 2004

24

Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease

Azevedo, Olga, Gago, Miguel, Miltenberger-Miltenyi, Gabriel, Gaspar, Paulo, Sousa, Nuno, Cunha, Damião

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 390 KB

english, 2017

25

International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS

De Carvalho, Mamede, Ryczkowski, Adam, Andersen, Peter, Gromicho, Marta, Grosskreutz, Julian, Kuźma-Kozakiewicz, Magdalena, Petri, Susanne, Piotrkiewicz, Maria, Miltenberger Miltenyi, Gabriel

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Année:

2017

Langue:

english

Fichier:

PDF, 408 KB

english, 2017

26

C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

Miltenberger-Miltenyi, Gabriel, Conceição, Vasco A, Gromicho, Marta, Pronto-Laborinho, Ana Catarina, Pinto, Susana, de Carvalho, Mamede

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2018

Langue:

english

Fichier:

PDF, 161 KB

english, 2018

27

Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

Azevedo, Olga, Gal, Andreas, Faria, Rui, Gaspar, Paulo, Miltenberger-Miltenyi, Gabriel, Gago, Miguel F., Dias, Fátima, Martins, Alice, Rodrigues, Jorge, Reimão, Pedro, Pereira, Olga, Simões, Sónia, Lo

Journal:

Molecular Genetics and Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 6.01 MB

english, 2019

28

Teste genético post mortem, o diagnóstico clínico não se esgota com a morte do doente

Ribeiro, Sílvia, Coelho, Luís, Puentes, Katerina, Miltenberger‐Miltenyi, Gabriel, Faria, Bebiana, Calvo, Lucy, Primo, João, Sanfins, Víctor, Lourenço, António

Journal:

Revista Portuguesa de Cardiologia

Année:

2019

Fichier:

PDF, 2.86 MB

2019

29

Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees

Gago, Miguel Fernandes, Azevedo, Olga, Guimarães, Andreia, Teresa Vide, Ana, Lamas, Nuno J., Oliveira, Tiago Gil, Gaspar, Paulo, Bicho, Estela, Miltenberger-Miltenyi, Gabriel, Ferreira, Joaquim, Sousa

Journal:

Journal of Parkinson s Disease

Année:

2019

Langue:

english

Fichier:

PDF, 415 KB

english, 2019

30

p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease

Carvalho Silva, Daniela Marisa, Marques, Nuno, Azevedo, Olga, Miltenberger-Miltenyi, Gabriel, Bento, Dina, Guedes, João, Azevedo, Pedro, Bispo, João, Mota, Teresa, Fernandes, Raquel, Nzwalo, Hipólito,

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 558 KB

english, 2019

31

Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patients

Miltenberger-Miltenyi, Gabriel, Cruz-Machado, Ana Rita, Saville, Jennifer, Conceição, Vasco A, Calado, Ângelo, Lopes, Inês, Fuller, Maria, Fonseca, João Eurico

Journal:

Année:

2019

Fichier:

PDF, 158 KB

2019

32

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

Azevedo, Olga, Gago, Miguel F., Miltenberger-Miltenyi, Gabriel, Robles, Ana Raquel, Costa, Maria AntÃ³nia, Pereira, Olga, Vide, Ana Teresa, Castelo Branco, GonÃ§alo, SimÃµes, SÃ³nia, GuimarÃ£es, Maria

Journal:

Molecular Genetics and Metabolism Reports

Année:

2020

Langue:

english

Fichier:

PDF, 2.44 MB

english, 2020

33

Screening for Fabry disease in patients with left ventricular noncompaction

Azevedo, Olga, Marques, Nuno, Craveiro, Nuno, Pereira, Ana Rita, Antunes, Hugo, Reis, Liliana, Guerreiro, Rui Azevedo, Pontes dos Santos, Rui, Miltenberger-Miltenyi, Gabriel, Sousa, Nuno, Cunha, DamiÃ

Journal:

Revista Portuguesa de Cardiologia

Année:

2019

Fichier:

PDF, 694 KB

2019