Ghent University Academic Bibliography

Your filters: cql: parent exact "NEUROLOGY-GENETICS"

Add to list
- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Madeleine Hellemans (UGent) , Elke Debackere (UGent) , Elke Bogaert (UGent) , Sofie Symoens (UGent) , Leslie Naesens (UGent) , Elien Lecomte, David Crosiers, et al.

(2023) NEUROLOGY-GENETICS. 9(3).
Add to list
- Journal Article
- A1
- open access
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).
Add to list
- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT

Dimitri Hemelsoet (UGent) , Arnaud Vanlander (UGent) , Joél Smet (UGent) , Elise Vantroys, Marjan Acou (UGent) , Ingeborg Goethals (UGent) , Tom Sante (UGent) , Sara Seneca, Björn Menten (UGent) and Rudy Van Coster (UGent)

(2018) NEUROLOGY-GENETICS. 4(6).
Add to list
- Journal Article
- A1
- open access
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).
Add to list
- Journal Article
- A2
- open access
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

Julie van der Zee, Peter Marien, Roeland Crols, Sara Van Mossevelde, Lubina Dillen, Federica Perrone, Sebastiaan Engelborghs, Jo Verhoeven, Tine D'aes, Chantal Ceuterick-De Groote, et al.

(2016) NEUROLOGY-GENETICS. 2(5).
Add to list
- Journal Article
- A2
- open access
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Jennifer Hirst, Marianna Madeo, Katrien Smets, James R Edgar, Ludger Schols, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken (UGent) , et al.

(2016) NEUROLOGY-GENETICS. 2(5).

Academic Bibliography

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

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

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Contents

Support

Contact