Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Laszlo Baliko"'
Autor:
Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia‐Moreno, Magda M Santana, Bart van de Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen de Vries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schöls, SCA3 neurofilament study group, Christian Barro, Jeannette Hübener‐Schmid, Matthis Synofzik, Christian Deuschle, Elke Stransky, Kathrin Brockmann, Jörg B Schulz, Laszlo Baliko, Judith van Gaalen, Mafalda Raposo, Andreas Jeromin
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 7, Pp 1-19 (2020)
Abstract With molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA3), easily accessible, cross‐species validated biomarkers for human and preclinical trials are warranted, particularly for the preataxic disease stage. We as
Externí odkaz:
https://doaj.org/article/5f400354b7714009b295040d28db33a6
Autor:
Thomas Klockgether, Wolfgang Nachbauer, Alexandra Durr, Holger Hengel, Alessandro Roca, Katrin Bürk-Gergs, Kathrin Reetz, Dagmar Timmann, Olaf Riess, Caterina Mariotti, Florian Harmuth, Sandro Romanzetti, Jörg B. Schulz, Marcella Masciullo, Carlo Casali, Lorenzo Nanetti, Alessandro Filla, Maria Rakowicz, Jun Suk Kang, Béla Melegh, Laszlo Baliko, Jon Infante, Grzegorz Makowicz, Ludger Schöls, Heike Jacobi, Marie Lorraine Monin, Sophie Tezenas du Montcel
Publikováno v:
The lancet / Neurology 19(9), 738-747 (2020). doi:10.1016/S1474-4422(20)30235-0
Summary Background Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among apparently healthy carriers of mutations associated with the most common SCAs (SCA1, SCA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75b6d7f3365a7c46786ed5963148a06
http://hdl.handle.net/11573/1638827
http://hdl.handle.net/11573/1638827
Autor:
Zsolt Bánfai, Endre Pál, Katalin Komlósi, Laszlo Baliko, Béla Melegh, Kinga Hadzsiev, Marton Melegh
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cbc87f1c6b9ee5808d8de7d2027636
http://link.springer.com/article/10.1186/s12881-017-0463-y
http://link.springer.com/article/10.1186/s12881-017-0463-y
Autor:
Rafał Rola, Antonella Antenora, Tanja Schmitz-Hübsch, Massimo Pandolfo, Bart P.C. van de Warrenburg, Anna Castaldo, Alexis Brice, Wolfgang Nachbauer, Sophie Tezenas du Montcel, José Berciano, Arron Cook, Paola Giunti, Caterina Mariotti, Jörg B. Schulz, Lorenzo Nanetti, Heike Jacobi, Kang Jun-Suk, Jon Infante, Holger Hengel, Alexandra Durr, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Michael H Parkinson, Alessandro Filla, Béla Melegh, Maria Rakowicz, Alhassane Diallo, Perrine Charles, Sylvia Boesch, Anna Sulek, Dagmar Timmann, Peter Bauer, Cecila Marelli, Robyn Labrum, Marta Panzeri
Publikováno v:
Movement disorders
Movement disorders 34(8), 1220-1227 (2019). doi:10.1002/mds.27739
Movement Disorders, 34, 1220-1227
Movement Disorders, 34, 8, pp. 1220-1227
Movement disorders 34(8), 1220-1227 (2019). doi:10.1002/mds.27739
Movement Disorders, 34, 1220-1227
Movement Disorders, 34, 8, pp. 1220-1227
Background: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective: To quantify the impact of disease progression measured by the Scale for the Assessment and Rat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2527d82655eeffa347c74770eb8a24d5
https://www.ncbi.nlm.nih.gov/pubmed/31211461
https://www.ncbi.nlm.nih.gov/pubmed/31211461
Autor:
Paola Giunti, Sophie Tezenas du Montcel, Alessandro Filla, Anna Sulek, Massimo Pandolfo, Caterina Mariotti, Alhassane Diallo, Sylvia Boesch, Dagmar Timmann, Bart P.C. van de Warrenburg, Lidia Sarro, Peter Bauer, Perrine Charles, Maria Rakowicz, Jun Suk Kang, Robyn Labrum, Tanja Schmitz-Hübsch, Cecila Marelli, Jörg B. Schulz, Lorenzo Nanetti, Holger Hengel, Alexis Brice, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Wolfgang Nachbauer, Michael H Parkinson, Sandra Szymanski, Béla Melegh, Arron Cook, Heike Jacobi, Jon Infante, Antonella Antenora, Anna Sobanska, Audrey Tanguy Melac, Alexandra Durr, José Berciano
Publikováno v:
Journal of Neurology, 265, 2040-2051
Journal of Neurology, 265, 9, pp. 2040-2051
Journal of neurology 265(9), 2040-2051 (2018). doi:10.1007/s00415-018-8954-0
Journal of Neurology, 265, 9, pp. 2040-2051
Journal of neurology 265(9), 2040-2051 (2018). doi:10.1007/s00415-018-8954-0
To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427b5d0bb39e155807c22df0c47dba54
http://hdl.handle.net/11588/722781
http://hdl.handle.net/11588/722781
Autor:
Zsolt Bánfai, Katalin Komlósi, Laszlo Baliko, Béla Melegh, Kinga Hadzsiev, Marton Melegh, Endre Pál
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-1 (2017)
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-1 (2017)
Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle mus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03fcc09040d52ad0a6c0d4c28b6830ca
http://europepmc.org/articles/PMC5733089
http://europepmc.org/articles/PMC5733089
Autor:
Massimo Pandolfo, Sylvia Boesch, Laszlo Baliko, Thomas Klockgether, Sandra Szymanski, Ludger Schöls, Alessandro Filla, Anna Sulek, Arron Cook, Bart P.C. van de Warrenburg, Heike Jacobi, Maria Rakowicz, Jun Suk Kang, Holger Hengel, Michael H Parkinson, Dagmar Timmann, Anna Sobanska, Jon Infante, Alexis Brice, Peter Bauer, Jörg B. Schulz, Lorenzo Nanetti, Sophie Tezenas du Montcel, Antonella Antenora, Cecilia Marelli, Alexandra Durr, Paola Giunti, Robyn Labrum, Marta Panzeri, Béla Melegh, Alhassane Diallo, Perrine Charles, Caterina Mariotti, Sonia Molho, José Berciano, Tanja Schmitz-Hübsch
Publikováno v:
The lancet / Neurology 14(11), 1101-1108 (2015). doi:10.1016/S1474-4422(15)00202-1
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Item does not contain fulltext BACKGROUND: Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases. As potential treatments for these diseases are being developed, precise knowledge of their natural history is needed. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534c17ecab923dbbb896a52ac0d70e3c
https://doi.org/10.1016/s1474-4422(15)00202-1
https://doi.org/10.1016/s1474-4422(15)00202-1
Autor:
Caterina Mariotti, Jon Infante, Alessandro Filla, Heike Jacobi, Cecila Marelli, Sophie Tezenas du Montcel, Alexis Brice, Bart P.C. van de Warrenburg, José Berciano, Jörg B. Schulz, Lorenzo Nanetti, Dagmar Timmann, Anna Sobanska, Peter Bauer, Paola Giunti, Michael H Parkinson, Massimo Pandolfo, Alhassane Diallo, Robyn Labrum, Marta Panzeri, Perrine Charles, Antonella Antenora, Alexandra Durr, Anna Sulek, Holger Hengel, Tanja Schmitz-Hübsch, Ludger Schöls, Arron Cook, Laszlo Baliko, Thomas Klockgether, Béla Melegh, Sylvia Boesch, Maria Rakowicz, Jun Suk Kang
Publikováno v:
Movement Disorders Clinical Practice, 4, 689-697
Movement Disorders Clinical Practice
Movement Disorders Clinical Practice, 2017, 4 (5), pp.689--697. ⟨10.1002/mdc3.12522⟩
Movement Disorders Clinical Practice, 4, 5, pp. 689-697
Movement disorders clinical practice 4(5), 689-697 (2017). doi:10.1002/mdc3.12522
Movement Disorders Clinical Practice
Movement Disorders Clinical Practice, 2017, 4 (5), pp.689--697. ⟨10.1002/mdc3.12522⟩
Movement Disorders Clinical Practice, 4, 5, pp. 689-697
Movement disorders clinical practice 4(5), 689-697 (2017). doi:10.1002/mdc3.12522
Background Spinocerebellar ataxias (SCAs) are dominantly inherited, progressive ataxia disorders. Disease progression could be preceded by weight loss. Objectives We aimed to study the course of weight loss in patients who had the most common SCAs (S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2bb7535feb57d032b1b892941c97dcd
http://hdl.handle.net/2066/189795
http://hdl.handle.net/2066/189795
Autor:
Dagmar Timmann, Massimo Pandolfo, Paola Giunti, Sylvia Boesch, Ludger Schöls, C.C.P. Verstappen, B.P.C. van de Warrenburg, Lisa Bunn, Béla Melegh, Emr Fonteyn, Laszlo Baliko, Thomas Klockgether, C. Globas, Bastiaan R. Bloem, T. Schmitz-Hübsch
Publikováno v:
European Neurology, 69, 53-7
European neurology 69(1), 53-57 (2013). doi:10.1159/000342907
European Neurology, 69, 1, pp. 53-7
European neurology 69(1), 53-57 (2013). doi:10.1159/000342907
European Neurology, 69, 1, pp. 53-7
Item does not contain fulltext In a previous retrospective study, we demonstrated that falls are common and often injurious in dominant spinocerebellar ataxias (SCAs) and that nonataxia features play an important role in these falls. Retrospective su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda33ea63cf39dd5f4c70fe4c78e867
https://doi.org/10.1159/000342907
https://doi.org/10.1159/000342907
Autor:
Franziska Hoche, Béla Melegh, Wilfred F. A. den Dunnen, Laszlo Bartos, Katalin Steinecker, Thomas Deller, Horst-Werner Korf, Thomas Klockgether, Udo Rüb, Laszlo Baliko, Georg Auburger, Eniko Safrany
Publikováno v:
Cerebellum, 10(2), 245-253. SPRINGER
Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominantly inherited cerebellar ataxia and is assigned to the CAG repeat or polyglutamine diseases. Recent morphological studies characterized the pathoanatomical features in heterozygou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44c07882c3486ff944ab09c759c8deed
https://research.rug.nl/en/publications/b09bea6c-ac53-4abd-9c4c-93cf3e94dd98
https://research.rug.nl/en/publications/b09bea6c-ac53-4abd-9c4c-93cf3e94dd98