Accueil
Jana Haberlova
Jana Haberlova
Affiliations
Department of Paediatric Neurology, University Hospital Motol, Prague, Czech Republic.
Publications (10)
Children and young adults with spinal muscular atrophy treated with nusinersen.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec:
Damjan Osredkar
,
Markéta Jílková
,
Tita Butenko
,
Tanja Loboda
,
Tanja Golli
,
Petra Fuchsová
,
Marie Rohlenová
,
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Journal of neurology
Avec:
Susana Quijano-Roy
,
Claudia Castiglioni
,
John Vissing
,
Francina Munell
,
François Rivier
,
Tanya Stojkovic
,
Edoardo Malfatti
,
Marta Gómez García de la Banda
,
Giorgio Tasca
,
Laura Costa Comellas
,
Audrey Benezit
,
Helge Amthor
,
Ivana Dabaj
,
Clara Gontijo Camelo
,
Pascal Laforêt
,
John Rendu
,
Norma B Romero
,
Eliana Cavassa
,
Fabiana Fattori
,
Christophe Beroud
,
Jana Zídková
,
Nicolas Leboucq
,
Nicoline Løkken
,
Ángel Sanchez-Montañez
,
Ximena Ortega
,
Martin Kynčl
,
Corinne Metay
,
David Gómez-Andrés
,
Robert Y Carlier
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA neurology
Avec:
Michela Guglieri
,
Paula R Clemens
,
Seth J Perlman
,
Edward C Smith
,
Iain Horrocks
,
Richard S Finkel
,
Jean K Mah
,
Nicolas Deconinck
,
Nathalie Goemans
,
Volker Straub
,
Laurel J Mengle-Gaw
,
Benjamin D Schwartz
,
Amy D Harper
,
Perry B Shieh
,
Liesbeth De Waele
,
Diana Castro
,
Michelle L Yang
,
Monique M Ryan
,
Craig M McDonald
,
Mar Tulinius
,
Richard Webster
,
Hugh J McMillan
,
Nancy L Kuntz
,
Vashmi K Rao
,
Giovanni Baranello
,
Stefan Spinty
,
Anne-Marie Childs
,
Annie M Sbrocchi
,
Kathryn A Selby
,
Migvis Monduy
,
Yoram Nevo
,
Juan J Vilchez-Padilla
,
Andres Nascimento-Osorio
,
Erik H Niks
,
Imelda J M de Groot
,
Marina Katsalouli
,
Meredith K James
,
Johannes van den Anker
,
Jesse M Damsker
,
Alexandra Ahmet
,
Leanne M Ward
,
Mark Jaros
,
Phil Shale
,
Utkarsh J Dang
,
Eric P Hoffman
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Orphanet journal of rare diseases
Avec:
Antonio Atalaia
,
Dagmar Wandrei
,
Nawel Lalout
,
Rachel Thompson
,
Adrian Tassoni
,
Peter A C 't Hoen
,
Dimitrios Athanasiou
,
Suzie-Ann Baker
,
Paraskevi Sakellariou
,
Georgios Paliouras
,
Carla D'Angelo
,
Rita Horvath
,
Michelangelo Mancuso
,
Nadine van der Beek
,
Cornelia Kornblum
,
Janbernd Kirschner
,
Davide Pareyson
,
Guillaume Bassez
,
Laura Blacas
,
Maxime Jacoupy
,
Catherine Eng
,
François Lamy
,
Jean-Philippe Plançon
,
Esther Brusse
,
Janneke G J Hoeijmakers
,
Marianne de Visser
,
Kristl G Claeys
,
Carmen Paradas
,
Antonio Toscano
,
Vincenzo Silani
,
Melinda Gyenge
,
Evy Reviers
,
Dalil Hamroun
,
Elisabeth Vroom
,
Mark D Wilkinson
,
Hanns Lochmuller
,
Teresinha Evangelista
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Molecular genetics & genomic medicine
Avec:
Marketa Vlckova
,
Darina Prchalova
,
Pavel Zimmermann
,
Sarka Bendova
,
Veronika Moslerova
,
Viktor Stranecky
,
Zdenek Sedlacek
,
Miroslava Hancarova
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.
European journal of neurology
Avec:
G Giacomucci
,
M Monforte
,
J Diaz-Manera
,
K Mul
,
R Fernandez Torrón
,
L Maggi
,
C Marini Bettolo
,
J R Dahlqvist
,
J Haberlova
,
P Camaño
,
M Gros
,
T Tartaglione
,
L Cristiano
,
S Gerevini
,
P Calandra
,
G Deidda
,
E Giardina
,
S Sacconi
,
V Straub
,
J Vissing
,
B Van Engelen
,
E Ricci
,
G Tasca
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec:
Janbernd Kirschner
,
Nina Butoianu
,
Nathalie Goemans
,
Anna Kostera-Pruszczyk
,
Eugenio Mercuri
,
W Ludo van der Pol
,
Susana Quijano-Roy
,
Thomas Sejersen
,
Eduardo F Tizzano
,
Andreas Ziegler
,
Laurent Servais
,
Francesco Muntoni
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Journal of neurology
Avec:
Andrea Barp
,
Pascal Laforet
,
Luca Bello
,
Giorgio Tasca
,
John Vissing
,
Mauro Monforte
,
Enzo Ricci
,
Ariane Choumert
,
Tanya Stojkovic
,
Edoardo Malfatti
,
Elena Pegoraro
,
Claudio Semplicini
,
Roberto Stramare
,
Olivier Scheidegger
,
Volker Straub
,
Chiara Marini-Bettolo
,
Nicoline Løkken
,
Jordi Diaz-Manera
,
Jon A Urtizberea
,
Eugenio Mercuri
,
Martin Kynčl
,
Maggie C Walter
,
Robert Y Carlier
Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy.
Frontiers in neurology
Avec:
Katarzyna Kotulska
,
Aviva Fattal-Valevski
,
2024 update: European consensus statement on gene therapy for spinal muscular atrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec:
Janbernd Kirschner
,
Günther Bernert
,
Nina Butoianu
,
Liesbeth De Waele
,
Aviva Fattal-Valevski
,
Teresa Moreno
,
Andrea Klein
,
Anna Kostera-Pruszczyk
,
Eugenio Mercuri
,
Susana Quijano-Roy
,
Thomas Sejersen
,
Eduardo F Tizzano
,
W Ludo van der Pol
,
Sean Wallace
,
Dimitrios Zafeiriou
,
Andreas Ziegler
,
Francesco Muntoni
,
Laurent Servais
Réseau de co-auteurs
Susana Quijano-Roy
3 collaborations
Janbernd Kirschner
3 collaborations
Eugenio Mercuri
3 collaborations
John Vissing
2 collaborations
Tanya Stojkovic
2 collaborations
Edoardo Malfatti
2 collaborations
Giorgio Tasca
2 collaborations
Nicoline Løkken
2 collaborations
Martin Kynčl
2 collaborations
Robert Y Carlier
2 collaborations
Nathalie Goemans
2 collaborations
Volker Straub
2 collaborations
Liesbeth De Waele
2 collaborations
Nina Butoianu
2 collaborations
Anna Kostera-Pruszczyk
2 collaborations
W Ludo van der Pol
2 collaborations
Thomas Sejersen
2 collaborations
Eduardo F Tizzano
2 collaborations
Andreas Ziegler
2 collaborations
Laurent Servais
2 collaborations
Francesco Muntoni
2 collaborations
Aviva Fattal-Valevski
2 collaborations
Damjan Osredkar
1 collaboration
Markéta Jílková
1 collaboration
Tita Butenko
1 collaboration
Tanja Loboda
1 collaboration
Tanja Golli
1 collaboration
Petra Fuchsová
1 collaboration
Marie Rohlenová
1 collaboration
Claudia Castiglioni
1 collaboration
Francina Munell
1 collaboration
François Rivier
1 collaboration
Marta Gómez García de la Banda
1 collaboration
Laura Costa Comellas
1 collaboration
Audrey Benezit
1 collaboration
Helge Amthor
1 collaboration
Ivana Dabaj
1 collaboration
Clara Gontijo Camelo
1 collaboration
Pascal Laforêt
1 collaboration
John Rendu
1 collaboration
Norma B Romero
1 collaboration
Eliana Cavassa
1 collaboration
Fabiana Fattori
1 collaboration
Christophe Beroud
1 collaboration
Jana Zídková
1 collaboration
Nicolas Leboucq
1 collaboration
Ángel Sanchez-Montañez
1 collaboration
Ximena Ortega
1 collaboration
Corinne Metay
1 collaboration
David Gómez-Andrés
1 collaboration
Michela Guglieri
1 collaboration
Paula R Clemens
1 collaboration
Seth J Perlman
1 collaboration
Edward C Smith
1 collaboration
Iain Horrocks
1 collaboration
Richard S Finkel
1 collaboration
Jean K Mah
1 collaboration
Nicolas Deconinck
1 collaboration
Laurel J Mengle-Gaw
1 collaboration
Benjamin D Schwartz
1 collaboration
Amy D Harper
1 collaboration
Perry B Shieh
1 collaboration
Diana Castro
1 collaboration
Michelle L Yang
1 collaboration
Monique M Ryan
1 collaboration
Craig M McDonald
1 collaboration
Mar Tulinius
1 collaboration
Richard Webster
1 collaboration
Hugh J McMillan
1 collaboration
Nancy L Kuntz
1 collaboration
Vashmi K Rao
1 collaboration
Giovanni Baranello
1 collaboration
Stefan Spinty
1 collaboration
Anne-Marie Childs
1 collaboration
Annie M Sbrocchi
1 collaboration
Kathryn A Selby
1 collaboration
Migvis Monduy
1 collaboration
Yoram Nevo
1 collaboration
Juan J Vilchez-Padilla
1 collaboration
Andres Nascimento-Osorio
1 collaboration
Erik H Niks
1 collaboration
Imelda J M de Groot
1 collaboration
Marina Katsalouli
1 collaboration
Meredith K James
1 collaboration
Johannes van den Anker
1 collaboration
Jesse M Damsker
1 collaboration
Alexandra Ahmet
1 collaboration
Leanne M Ward
1 collaboration
Mark Jaros
1 collaboration
Phil Shale
1 collaboration
Utkarsh J Dang
1 collaboration
Eric P Hoffman
1 collaboration
Antonio Atalaia
1 collaboration
Dagmar Wandrei
1 collaboration
Nawel Lalout
1 collaboration
Rachel Thompson
1 collaboration
Adrian Tassoni
1 collaboration
Peter A C 't Hoen
1 collaboration
Dimitrios Athanasiou
1 collaboration
Suzie-Ann Baker
1 collaboration
Paraskevi Sakellariou
1 collaboration
Georgios Paliouras
1 collaboration
Carla D'Angelo
1 collaboration
Rita Horvath
1 collaboration
Michelangelo Mancuso
1 collaboration
Nadine van der Beek
1 collaboration
Cornelia Kornblum
1 collaboration
Davide Pareyson
1 collaboration
Guillaume Bassez
1 collaboration
Laura Blacas
1 collaboration
Maxime Jacoupy
1 collaboration
Catherine Eng
1 collaboration
François Lamy
1 collaboration
Jean-Philippe Plançon
1 collaboration
Esther Brusse
1 collaboration
Janneke G J Hoeijmakers
1 collaboration
Marianne de Visser
1 collaboration
Kristl G Claeys
1 collaboration
Carmen Paradas
1 collaboration
Antonio Toscano
1 collaboration
Vincenzo Silani
1 collaboration
Melinda Gyenge
1 collaboration
Evy Reviers
1 collaboration
Dalil Hamroun
1 collaboration
Elisabeth Vroom
1 collaboration
Mark D Wilkinson
1 collaboration
Hanns Lochmuller
1 collaboration
Teresinha Evangelista
1 collaboration
Marketa Vlckova
1 collaboration
Darina Prchalova
1 collaboration
Pavel Zimmermann
1 collaboration
Sarka Bendova
1 collaboration
Veronika Moslerova
1 collaboration
Viktor Stranecky
1 collaboration
Zdenek Sedlacek
1 collaboration
Miroslava Hancarova
1 collaboration
G Giacomucci
1 collaboration
M Monforte
1 collaboration
J Diaz-Manera
1 collaboration
K Mul
1 collaboration
R Fernandez Torrón
1 collaboration
L Maggi
1 collaboration
C Marini Bettolo
1 collaboration
J R Dahlqvist
1 collaboration
J Haberlova
1 collaboration
P Camaño
1 collaboration
M Gros
1 collaboration
T Tartaglione
1 collaboration
L Cristiano
1 collaboration
S Gerevini
1 collaboration
P Calandra
1 collaboration
G Deidda
1 collaboration
E Giardina
1 collaboration
S Sacconi
1 collaboration
V Straub
1 collaboration
J Vissing
1 collaboration
B Van Engelen
1 collaboration
E Ricci
1 collaboration
G Tasca
1 collaboration
Andrea Barp
1 collaboration
Pascal Laforet
1 collaboration
Luca Bello
1 collaboration
Mauro Monforte
1 collaboration
Enzo Ricci
1 collaboration
Ariane Choumert
1 collaboration
Elena Pegoraro
1 collaboration
Claudio Semplicini
1 collaboration
Roberto Stramare
1 collaboration
Olivier Scheidegger
1 collaboration
Chiara Marini-Bettolo
1 collaboration
Jordi Diaz-Manera
1 collaboration
Jon A Urtizberea
1 collaboration
Maggie C Walter
1 collaboration
Katarzyna Kotulska
1 collaboration
Günther Bernert
1 collaboration
Teresa Moreno
1 collaboration
Andrea Klein
1 collaboration
Sean Wallace
1 collaboration
Dimitrios Zafeiriou
1 collaboration