Back

ds. E.F.F. (Jan Herman) Montfort

ds. E.F.F. (Jan Herman) Montfort

Full Professor

Show full profile

Research Output (280)

Sensitivity of brain MRI and neurological examination for detection of upper motor neurone degeneration in amyotrophic lateral sclerosis

Nitert Abram D, Tan Harold Hg, Walhout Renée, Knijnenburg Nienke L, van Es Michael A, Veldink Jan H, Hendrikse Jeroen, Westeneng Henk-Jan, van den Berg Leonard H 18 Oct 2021, In: Journal of neurology, neurosurgery, and psychiatry. 93 , p. 82-92 11 p.

Role of Rare Genetic Variants Found in Families with Intracranial Aneurysms in the General Dutch and UK Population

Bakker Mark K., Ettema Roos A., Klostermann Maxime, Rinkel Gabriël J.E., Veldink Jan H., Ruigrok Ynte M. Sep 2021, In: Stroke. 52 , p. E540-E541

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Johnson Janel O, Chia Ruth, Miller Danny E, Li Rachel, Kumaran Ravindran, Abramzon Yevgeniya, Alahmady Nada, Renton Alan E, Topp Simon D, Gibbs J Raphael, Cookson Mark R, Sabir Marya S, Dalgard Clifton L, Troakes Claire, Jones Ashley R, Shatunov Aleksey, Iacoangeli Alfredo, Al Khleifat Ahmad, Ticozzi Nicola, Silani Vincenzo, Gellera Cinzia, Blair Ian P, Dobson-Stone Carol, Kwok John B, Bonkowski Emily S, Palvadeau Robin, Tienari Pentti J, Morrison Karen E, Shaw Pamela J, Al-Chalabi Ammar, Brown Robert H, Calvo Andrea, Mora Gabriele, Al-Saif Hind, Gotkine Marc, Leigh Fawn, Chang Irene J, Perlman Seth J, Glass Ian, Scott Anna I, Shaw Christopher E, Basak A Nazli, Landers John E, Chiò Adriano, Crawford Thomas O, Kenna Kevin P, McLaughlin Russell L, van Rheenen Wouter, Veldink Jan H, van den Berg Leonard H, 30 Aug 2021, In: JAMA Neurology. 78 , p. 1236-1248 13 p.

Advances in the genetic classification of amyotrophic lateral sclerosis

Cooper-Knock Johnathan, Harvey Calum, Zhang Sai, Moll Tobias, Timpanaro Ilia Sarah, Kenna Kevin P, Iacoangeli Alfredo, Veldink Jan H 2 Aug 2021, In: Current Opinion in Neurology. 34 , p. 756-764

Genetic analysis of ALS cases in the isolated island population of Malta

Borg Rebecca, Farrugia Wismayer Maia, Bonavia Karl, Farrugia Wismayer Andrew, Vella Malcolm, van Vugt Joke J F A, Kenna Brendan J, Kenna Kevin P, Vassallo Neville, Veldink Jan H, Cauchi Ruben J Apr 2021, In: European Journal of Human Genetics. 29 , p. 604-614 11 p.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

Moisse Matthieu, Zwamborn Ramona A J, van Vugt Joke, van der Spek Rick, van Rheenen Wouter, Kenna Brendan, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Couratier Philippe, Vourc'h Patrick, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Başak Nazli A, Chen Xiao, Eberle Michael A, Al-Chalabi Ammar, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, Robberecht Wim, van Es Michael, van den Berg Leonard, Veldink Jan, Van Damme Philip, Apr 2021, In: Annals of Neurology. 89 , p. 686-697 12 p.

Erratum:Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene (Cell Reports (2020) 33(9), (S2211124720314455), (10.1016/j.celrep.2020.108456))

Cooper-Knock Johnathan, Zhang Sai, Kenna Kevin P, Moll Tobias, Franklin John P, Allen Samantha, Nezhad Helia Ghahremani, Iacoangeli Alfredo, Yacovzada Nancy Y, Eitan Chen, Hornstein Eran, Elhaik Eran, Celadova Petra, Bose Daniel, Farhan Sali, Fishilevich Simon, Lancet Doron, Morrison Karen E, Shaw Christopher E, Al-Chalabi Ammar, Veldink Jan H, Kirby Janine, Snyder Michael P, Shaw Pamela J, 2 Feb 2021, In: Cell Reports. 34

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed

Iacoangeli Alfredo, Fogh Isabella, Selvackadunco Sashika, Topp Simon D, Shatunov Aleksey, van Rheenen Wouter, Al-Khleifat Ahmad, Opie-Martin Sarah, Ratti Antonia, Calvo Andrea, Van Damme Philip, Robberecht Wim, Chio Adriano, Dobson Richard J, Hardiman Orla, Shaw Christopher E, van den Berg Leonard H, Andersen Peter M, Smith Bradley N, Silani Vincenzo, Veldink Jan H, Breen Gerome, Troakes Claire, Al-Chalabi Ammar, Jones Ashley R, 2021, In: Brain communications. 3

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Nabais Marta F., Lin Tian, Benyamin Beben, Williams Kelly L., Garton Fleur C., Vinkhuyzen Anna A.E., Zhang Futao, Vallerga Costanza L., Restuadi Restuadi, Freydenzon Anna, Zwamborn Ramona A.J., Hop Paul J., Robinson Matthew R., Gratten Jacob, Visscher Peter M., Hannon Eilis, Mill Jonathan, Brown Matthew A., Laing Nigel G., Mather Karen A., Sachdev Perminder S., Ngo Shyuan T., Steyn Frederik J., Wallace Leanne, Henders Anjali K., Needham Merrilee, Veldink Jan H., Mathers Susan, Nicholson Garth, Rowe Dominic B., Henderson Robert D., McCombe Pamela A., Pamphlett Roger, Yang Jian, Blair Ian P., McRae Allan F., Wray Naomi R. 1 Dec 2020, In: npj Genomic Medicine. 5 , p. 1-9

Thank you for your review!

Has this information helped you?

Please tell us why, so that we can improve our website.

Working at UMC Utrecht

Contact

Emergency?

Directions

Appointments

Practical

umcutrecht.nl uses cookies

This website uses cookies This website displays videos from, among others, YouTube. Such parties place cookies (third-party cookies). If you do not want these cookies, you can indicate that here. We also place cookies ourselves to improve our site.

Read more about the cookie policy

Agree No, rather not