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1

Actionable Genes, Core Databases and LOCUS Specific Databases (LSDBs)

Pinard, Amélie, Miltgen, Morgane, Blanchard, Arnaud, Mathieu, Hélène, Desvignes, Jean-Pierre, Fabre, Aurélie, Arnaud, Pauline, Barré, Laura, Krahn, Martin, Grandval, Philippe, Olschwang, Sylviane, Zaf

Journal:

Year:

2016

Language:

english

File:

PDF, 887 KB

english, 2016

2

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

Bartoli, Marc, Desvignes, Jean-Pierre, Nicolas, Levy, Martin, Krahn

Journal:

Year:

2014

Language:

english

File:

PDF, 479 KB

english, 2014

3

Respiratory and cardiac function in japanese patients with dysferlinopathy

Nishikawa, Atsuko, Mori-Yoshimura, Madoka, Segawa, Kazuhiko, Hayashi, Yukiko K., Takahashi, Toshiaki, Saito, Yuko, Nonaka, Ikuya, Krahn, Martin, Levy, Nicolas, Shimizu, Jun, Mitsui, Jun, Kimura, En, G

Journal:

Year:

2016

Language:

english

File:

PDF, 440 KB

english, 2016

4

Reduction of moisture sensitivity of PbS quantum dot solar cells by incorporation of reduced graphene oxide

Martín-García, Beatriz, Bi, Yu, Prato, Mirko, Spirito, Davide, Krahne, Roman, Konstantatos, Gerasimos, Moreels, Iwan

Journal:

Solar Energy Materials and Solar Cells

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

5

[IEEE 2018 IEEE 37th Symposium on Reliable Distributed Systems (SRDS) - Salvador, Brazil (2018.10.2-2018.10.5)] 2018 IEEE 37th Symposium on Reliable Distributed Systems (SRDS) - PubSub-SGX: Exploiting Trusted Execution Environments for Privacy-Preserving Publish/Subscribe Systems

Arnautov, Sergei, Brito, Andrey, Felber, Pascal, Fetzer, Christof, Gregor, Franz, Krahn, Robert, Ozga, Wojciech, Martin, Andre, Schiavoni, Valerio, Silva, Fabio, Tenorio, Marcus, Thummel, Nikolaus

Year:

2018

Language:

english

File:

PDF, 10 KB

english, 2018

6

Further heterogeneity in myopathy with tubular aggregates?

De Paula, Andre Maues, Bartoli, Marc, Courrier, Sebastien, Pouget, Jean, Levy, Nicolas, Pellissier, Jean-François, Figarella-Branger, Dominique, Krahn, Martin, Attarian, Shahram

Journal:

Year:

2012

Language:

english

File:

PDF, 328 KB

english, 2012

7

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Jaka, Oihane, Azpitarte, Margarita, Paisán-Ruiz, Coro, Zulaika, Miren, Casas-Fraile, Leire, Sanz, Raúl, Trevisiol, Nathalie, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, López de Munain, Adolfo, Sáenz

Journal:

Year:

2014

Language:

english

File:

PDF, 508 KB

english, 2014

8

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Kergourlay, Virginie, Raï, Ghadi, Blandin, Gaëlle, Salgado, David, Béroud, Christophe, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc

Journal:

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

9

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Kergourlay, Virginie, Blandin, Gaëlle, Blanck, Véronique, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 62 KB

english, 2015

10

Toward an objective measure of functional disability in dysferlinopathy

Woudt, Lisanne, Di Capua, Gabriella A., Krahn, Martin, Castiglioni, Claudia, Hughes, Ricardo, Campero, Mario, Trangulao, Alejandra, González-Hormazábal, Patricio, Godoy-Herrera, Raúl, Lévy, Nicolas, U

Journal:

Year:

2016

Language:

english

File:

PDF, 441 KB

english, 2016

11

MPA, a Free, Accessible, and Efficient Pipeline for Single Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Yauy, Kevin, Baux, David, Pegeot, Henri, Van Goethem, Charles, Mathieu, Charly, Guignard, Thomas, Morales, Raul Juntas, Lacourt, Delphine, Krahn, Martin, Lehtokari, Vilma-Lotta, Bonne, Gisele, Tuffery

Journal:

The Journal of Molecular Diagnostics

Year:

2018

File:

PDF, 799 KB

2018

12

Angle and Polarization Selective Spontaneous Emission in Dye‐Doped Metal/Insulator/Metal Nanocavities

Caligiuri, Vincenzo, Biffi, Giulia, Palei, Milan, Martín‐García, Beatriz, Pothuraju, Renuka Devi, Bretonnière, Yann, Krahne, Roman

Journal:

Advanced Optical Materials

Year:

2019

Language:

english

File:

PDF, 1.40 MB

english, 2019

13

Hepatocyte Growth Factor Receptor overexpression predicts reduced survival but its targeting is not effective in unselected HNSCC patients

Khan, Martin, Khaznadar, Sami S., Routila, Johannes, Ventelä, Sami, Schmid, Elke, Gebhart, Bastian, Becker, Eva T., Roider, Helge G., Perala, Merja, Schmitz, Arndt A., Krahn, Thomas, Ahsen, Oliver

Journal:

Year:

2020

Language:

english

File:

PDF, 5.60 MB

english, 2020

14

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Dionnet, EugÃ©nie, Defour, AurÃ©lia, Da Silva, Nathalie, Salvi, Alexandra, LÃ©vy, Nicolas, Krahn, Martin, Bartoli, Marc, Puppo, Francesca, Gorokhova, Svetlana

Journal:

Year:

2020

File:

PDF, 1.04 MB

2020

15

Electrocardiography of Inherited Arrhythmias and Cardiomyopathies (From Basic Science to Clinical Practice) ||

Green, Martin, Krahn, Andrew, Alqarawi, Wael

Year:

2020

File:

PDF, 15.45 MB

2020

16

Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

Sérgio B. Sousa, Raquel Pina, Lina Ramos, Naigel Pereira, Martin Krahn, Wiktor Borozdin, Jürgen Kohlhase, Marta Amorim, Katia Gonnet, Nicolas Lévy, Isabel M. Carreira, Ana Bela Couceiro, Jorge M. Sara

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 134 KB

english, 2008

17

CAPN3 mutations in patients with idiopathic eosinophilic myositis

Martin Krahn, Adolfo Lopez De Munain, Nathalie Streichenberger, Rafaëlle Bernard, Christophe Pécheux, Hervé Testard, José L. Pena-Segura, Eugenia Yoldi, Ana Cabello, Norma B. Romero, Juan J. Poza, San

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 885 KB

english, 2006

18

Analysis of the DYSF mutational spectrum in a large cohort of patients

Martin Krahn, Christophe Béroud, Véronique Labelle, Karine Nguyen, Rafaëlle Bernard, Guillaume Bassez, Dominique Figarella-Branger, Carla Fernandez, Julien Bouvenot, Isabelle Richard, Elisabeth Ollagn

Journal:

Year:

2009

Language:

english

File:

PDF, 314 KB

english, 2009

19

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Nicolas Wein, Aurélie Avril, Marc Bartoli, Cyriaque Beley, Soraya Chaouch, Pascal Laforêt, Anthony Behin, Gillian Butler-Browne, Vincent Mouly, Martin Krahn, Luis Garcia, Nicolas Lévy

Journal:

Year:

2010

Language:

english

File:

PDF, 366 KB

english, 2010

20

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, Fran

Journal:

Year:

2005

Language:

english

File:

PDF, 161 KB

english, 2005

21

Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, Fran

Journal:

Year:

2005

File:

PDF, 19 KB

2005

22

Dystrophies musculaires des ceintures : stratégie diagnostique, bases moléculaires

Emmanuelle Campana-Salort, Martin Krahn, Marc Bartoli, Isabelle Richard, Jean Pouget, Nicolas Levy

Journal:

Revue du Rhumatisme

Year:

2008

Language:

french

File:

PDF, 296 KB

french, 2008

23

Nouvelles stratégies thérapeutiques des dystrophies musculaires

Martin Krahn, Nicolas Lévy, Nathalie Danièle, Isabelle Richard, Marc Bartoli

Journal:

Revue du Rhumatisme

Year:

2008

Language:

french

File:

PDF, 495 KB

french, 2008

24

A prospective, randomized, double-blind, multicenter study comparing remifentanil with fentanyl in mechanically ventilated patients

Claudia Spies, Martin MacGuill, Anja Heymann, Christina Ganea, Daniel Krahne, Angelika Assman, Heinrich-Rudolf Kosiek, Kathrin Scholtz, Klaus-Dieter Wernecke, Jörg Martin

Journal:

Intensive Care Medicine

Year:

2011

Language:

english

File:

PDF, 317 KB

english, 2011

25

Modafinil’s Use in Combating Interferon-Induced Fatigue

Kari A. Martin, Lois E. Krahn, Vijayan Balan, Marianne J. Rosati

Journal:

Digestive Diseases and Sciences

Year:

2007

Language:

english

File:

PDF, 189 KB

english, 2007

26

Screening of the CAPN3 gene in patients with possible LGMD2A

Martin Krahn, Rafaëlle Bernard, Christophe Pécheux, El Hadi Hammouda, Bruno Eymard, Adolfo Lopez de Munain, Anna Maria Cobo, Norma Romero, Andoni Urtizberea, France Leturcq, Nicolas Lévy, The Calpain

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 287 KB

english, 2006

27

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

M Bartoli, P Nègre, N Wein, P Bourgeois, C Pécheux, N Lévy, Martin Krahn

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 548 KB

english, 2012

28

Sentinel Symptoms in Patients with Unexplained Cardiac Arrest: From the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER)

ANDREW D. KRAHN, JEFFREY S. HEALEY, CHRISTOPHER S. SIMPSON, VIJAY S. CHAUHAN, DAVID H. BIRNIE, JEAN CHAMPAGNE, MARTIN GARDNER, SHUBHAYAN SANATANI, SANTABHANU CHAKRABARTI, RAYMOND YEE, ALLAN C. SKANES,

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2012

Language:

english

File:

PDF, 593 KB

english, 2012

29

Therapeutic exon ‘switching’ for dysferlinopathies?

Lévy, Nicolas, Wein, Nicolas, Barthelemy, Florian, Mouly, Vincent, Garcia, Luis, Krahn, Martin, Bartoli, Marc

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 133 KB

english, 2010

30

Prognostic differences between atrial fibrillation and atrial flutter

Paul Lelorier, Karin H. Humphries, Andrew Krahn, Stuart J. Connolly, Mario Talajic, Martin Green, Robert Sheldon, Paul Dorian, David Newman, Charles R. Kerr, Raymond Yee, George J. Klein

Journal:

The American Journal of Cardiology

Year:

2004

Language:

english

File:

PDF, 128 KB

english, 2004

31

Enhancement of peripheral benzodiazepine receptor ligand-induced apoptosis and cell cycle arrest of esophageal cancer cells by simultaneous inhibition of MAPK/ERK kinase

Andreas P. Sutter, Kerstin Maaser, Bastian Gerst, Antje Krahn, Martin Zeitz, Hans Scherübl

Journal:

Biochemical Pharmacology

Year:

2004

Language:

english

File:

PDF, 395 KB

english, 2004

32

Hypokalemia leading to torsades de pointes: Munchausen's disorder or bulimia nervosa?

Lois E. Krahn, Josephine Lee, J.W. Richardson, M.J. Martin, M.K. O'Connor

Journal:

General Hospital Psychiatry

Year:

1997

Language:

english

File:

PDF, 933 KB

english, 1997

33

Numerical abnormalities of the Cyclin D1 gene locus on chromosome 11q13 in non-melanoma skin cancer

Jochen Utikal, Martin Udart, Ulrike Leiter, Peter Kaskel, Ralf Uwe Peter, Gertraud Krähn

Journal:

Year:

2005

Language:

english

File:

PDF, 196 KB

english, 2005

34

2010 Canadian Cardiovascular Society/Canadian Heart Rhythm Society Training Standards and Maintenance of Competency in Adult Clinical Cardiac Electrophysiology

Martin S. Green, Peter G. Guerra, Andrew D. Krahn

Journal:

Canadian Journal of Cardiology

Year:

2011

File:

PDF, 370 KB

2011

35

Peripheral benzodiazepine receptor ligands induce apoptosis and cell cycle arrest in human hepatocellular carcinoma cells and enhance chemosensitivity to paclitaxel, docetaxel, doxorubicin and the Bcl-2 inhibitor HA14-1

Andreas P. Sutter, Kerstin Maaser, Patricia Grabowski, Gesine Bradacs, Kirsten Vormbrock, Michael Höpfner, Antje Krahn, Bernhard Heine, Harald Stein, Rajan Somasundaram, Detlef Schuppan, Martin Zeitz,

Journal:

Journal of Hepatology

Year:

2004

Language:

english

File:

PDF, 326 KB

english, 2004

36

172nd ENMC International Workshop: Dysferlinopathies 29–31 January 2010, Naarden, The Netherlands

Martin Krahn, Isabel Illa, Nicolas Lévy, Kate Bushby

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 325 KB

english, 2011

37

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Luis Vernengo, Jorge Oliveira, Martin Krahn, Emilia Vieira, Rosário Santos, Luisa Carrasco, Luís Negrão, Ana Panuncio, France Leturcq, Veronique Labelle, Elsa Bronze-da-Rocha, Rosario Mesa, Carlos Piz

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 1.27 MB

english, 2011

38

Reliability of Self-Reported Nicotine Use as Determined by Serum Cotinine Levels in Patients Referred for Liver Transplantation

Robert P. Bright, Kari Martin Civalier, Lois Krahn

Journal:

Year:

2010

Language:

english

File:

PDF, 88 KB

english, 2010

39

The Canadian registry of atrial fibrillation: Lack of prognostic differences between atrial fibrillation and atrial flutter

Paul A. LeLorier, Karin H. Humphries, Andrew Krahn, Stuart Connolly, Mario Talajic, Martin Green, Robert Sheldon, Paul Dorian, David Newman, Charles R. Kerr, Raymond Yee, George J. Klein

Journal:

Journal of the American College of Cardiology

Year:

2003

Language:

english

File:

PDF, 161 KB

english, 2003

40

Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia

Sy, Raymond W., Gollob, Michael H., Klein, George J., Yee, Raymond, Skanes, Allan C., Gula, Lorne J., Leong-Sit, Peter, Gow, Robert M., Green, Martin S., Birnie, David H., Krahn, Andrew D.

Journal:

Year:

2011

Language:

english

File:

PDF, 2.57 MB

english, 2011

41

Measuring mechanical pain: The refinement and standardization of pressure pain threshold measurements

Melia, Michael, Schmidt, Martin, Geissler, Britta, König, Jochem, Krahn, Ulrike, Ottersbach, Hans Jürgen, Letzel, Stephan, Muttray, Axel

Journal:

Behavior Research Methods

Year:

2015

Language:

english

File:

PDF, 855 KB

english, 2015

42

How useful is thyroid function testing in patients with recent onset atrial fibrillation?

Krahn, Andrew D., Klein, George J., Kerr, Charles R., Connolly, Stewart J., Sheldon, Robert, Green, Martin S., Talajic, Mario

Journal:

Journal of the American College of Cardiology

Year:

1996

Language:

english

File:

PDF, 140 KB

english, 1996

43

Obituary

Krahn, Andrew D., Klein, George J., Kerr, Charles R., Connolly, Stewart J., Sheldon, Robert, Green, Martin S., Talajic, Mario

Journal:

Year:

1975

Language:

english

File:

PDF, 318 KB

english, 1975

44

Chromosome 7 Aneusomy. A Marker for Metastatic Melanoma?

Udart, Martin, Utikal, Jochen, Krähn, Gertraud M., Peter, Ralf U.

Journal:

Year:

2001

Language:

english

File:

PDF, 316 KB

english, 2001

45

Obituary

Udart, Martin, Utikal, Jochen, Krähn, Gertraud M., Peter, Ralf U.

Journal:

Year:

1987

Language:

english

File:

PDF, 368 KB

english, 1987

46

Major Depression in Medically III Patients

Sutor, Bruce, Rummans, Teresa A., Jowsey, Sheila G., Krahn, Lois E., Martin, Maurice J., O'Connor, M. Kevin, Philbrick, Kemuel L., Richardson, Jarrett W.

Journal:

Mayo Clinic Proceedings

Year:

1998

Language:

english

File:

PDF, 8.63 MB

english, 1998

47

Inherited Heart Rhythm Disease: Negotiating the Minefield for the Practicing Cardiologist

Krahn, Andrew D., Sanatani, Shubhayan, Gardner, Martin J., Arbour, Laura

Journal:

Canadian Journal of Cardiology

Year:

2013

File:

PDF, 1.03 MB

2013

48

Evolution of clinical diagnosis in patients presenting with unexplained cardiac arrest or syncope due to polymorphic ventricular tachycardia

Vittoria Matassini, Maria, Krahn, Andrew D., Gardner, Martin, Champagne, Jean, Sanatani, Shubhayan, Birnie, David H., Gollob, Michael H., Chauhan, Vijay, Simpson, Christopher S., Hamilton, Robert M, T

Journal:

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

49

Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1 , 5a, and 40a in a Cohort of 26 Patients

Krahn, Martin, Labelle, Véronique, Borges, Ana, Bartoli, Marc, Lévy, Nicolas

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 52 KB

english, 2010

50

Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

Krahn, Martin, Borges, Ana, Navarro, Claire, Schuit, Robert, Stojkovic, Tanya, Torrente, Yvan, Wein, Nicolas, Pécheux, Christophe, Lévy, Nicolas

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 69 KB

english, 2009

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