Ghent University Academic Bibliography

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Your filters: cql: author="De Jonghe, Peter" or (type any "bookEditor issueEditor" and editor="De Jonghe, Peter")

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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe (UGent) , Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, et al.

(2019) NEUROLOGY-GENETICS. 5(2).
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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Claire G Salter, Danique Beijer, Holly Hardy, Katy ES Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A Russell, Meriel M McEntagart, et al.

(2018) NEUROLOGY-GENETICS. 4(2).
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No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Yalda Baradaran-Heravi, Lubina Dillen, Hung Phuoc Nguyen, Sara Van Mossevelde, Jonathan Baets, Peter De Jonghe, Sebastiaan Engelborghs, Peter P De Deyn, Mathieu Vandenbulcke, Rik Vandenberghe, et al.

(2018) NEUROBIOLOGY OF AGING. 69.
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Analysis of shared heritability in common disorders of the brain

Verneri Anttila, Brendan Bulik-Sullivan, Hilary K Finucane, Raymond K Walters, Jose Bras, Laramie Duncan, Valentina Escott-Price, Guido J Falcone, Padhraig Gormley, Rainer Malik, et al.

(2018) SCIENCE. 360(6395).
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Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

Carlo Wilke, Jonathan Baets, Jan De Bleecker (UGent) , Tine Deconinck, Saskia Biskup, Stefanie N Hayer, Stephan Züchner, Rebecca Schüle, Peter De Jonghe and Matthis Synofzik

(2017) NEUROBIOLOGY OF AGING. 62. p.244.e9-244.e13
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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Federica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben (UGent) , Patrick Santens (UGent) , Jan De Bleecker (UGent) , Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, et al.

(2017) NEUROBIOLOGY OF AGING. 51. p.177.e9-177.e16
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Clinical evidence of disease anticipation in families segregating a C9orf72 repeat expansion

Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Kristel Sleegers, Jan De Bleecker (UGent) , Anne Sieben (UGent) , Rik Vandenberghe, Tim Van Langenhove (UGent) , Jonathan Baets, Olivier Deryck, et al.

(2017) JAMA NEUROLOGY. 74(4). p.445-452
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TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker (UGent) , Jonathan Baets, et al.

(2017) HUMAN MUTATION. 38(3). p.297-309
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M Johannesen, Ulrike BS Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, et al.

(2017) BRAIN. 140(5). p.1316-1336
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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses

Arnaud Vanlander (UGent) , Laura Muiño Mosquera (UGent) , Joseph Panzer (UGent) , Tine Deconinck, Joél Smet (UGent) , Sara Seneca, Jo Van Dorpe (UGent) , Liesbeth Ferdinande (UGent) , Chantal Ceuterick-de Groote, Peter De Jonghe, et al.

(2016) MITOCHONDRION. 27. p.32-38

Academic Bibliography

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Analysis of shared heritability in common disorders of the brain

Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Clinical evidence of disease anticipation in families segregating a C9orf72 repeat expansion

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses

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