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drs. R.S.S. van Helmes

drs. R.S.S. van Helmes

Associate Professor - medical
  • Neurologen

Research Programs

Brain

Research Output (110)

Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review

Demaegd Koen, Brilstra Eva H, Hoogendijk Jessica E, de Bie Charlotte I, de Pagter Mirjam S, van Hecke Wim, Mühlebner Angelika, van Es Michael A, Milone Margherita, van Rheenen Wouter Jun 2022, In: Neuromuscular Disorders. 32 , p. 527-532 6 p.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Hop Paul J, Zwamborn Ramona A J, Hannon Eilis, Shireby Gemma L, Nabais Marta F, Walker Emma M, van Rheenen Wouter, van Vugt Joke J F A, Dekker Annelot M, Westeneng Henk-Jan, Tazelaar Gijs H P, van Eijk Kristel R, Moisse Matthieu, Baird Denis, Al Khleifat Ahmad, Iacoangeli Alfredo, Ticozzi Nicola, Ratti Antonia, Cooper-Knock Jonathan, Morrison Karen E, Shaw Pamela J, Basak A Nazli, Chiò Adriano, Calvo Andrea, Moglia Cristina, Canosa Antonio, Brunetti Maura, Grassano Maurizio, Gotkine Marc, Lerner Yossef, Zabari Michal, Vourc'h Patrick, Corcia Philippe, Couratier Philippe, Mora Pardina Jesus S, Salas Teresa, Dion Patrick, Ross Jay P, Henderson Robert D, van Es Michael A, Pasterkamp R Jeroen, McLaughlin Russell L, Kenna Kevin P, van den Berg Leonard H, Veldink Jan H, Veldink Jan H, van den Berg Leonard H, Deelen Patrick, Deelen Patrick, Veldink Jan H, 23 Feb 2022, In: Science translational medicine. 14 , p. 1-15

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Al Khleifat Ahmad, Iacoangeli Alfredo, van Vugt Joke J F A, Bowles Harry, Moisse Matthieu, Zwamborn Ramona A J, van der Spek Rick A A, Shatunov Aleksey, Cooper-Knock Johnathan, Topp Simon, Byrne Ross, Gellera Cinzia, López Victoria, Jones Ashley R, Opie-Martin Sarah, Vural Atay, Campos Yolanda, van Rheenen Wouter, Kenna Brendan, Van Eijk Kristel R, Kenna Kevin, Weber Markus, Smith Bradley, Fogh Isabella, Silani Vincenzo, Morrison Karen E, Dobson Richard, van Es Michael A, McLaughlin Russell L, Vourc'h Patrick, Chio Adriano, Corcia Philippe, de Carvalho Mamede, Gotkine Marc, Panades Monica P, Mora Jesus S, Shaw Pamela J, Landers John E, Glass Jonathan D, Shaw Christopher E, Basak Nazli, Hardiman Orla, Robberecht Wim, Van Damme Philip, van den Berg Leonard H, Veldink Jan H, Al-Chalabi Ammar 28 Jan 2022, In: npj Genomic Medicine. 7 , p. 1-8

Mortality in polytrauma patients with moderate to severe TBI on par with isolated TBI patients:TBI as last frontier in polytrauma patients

Niemeyer Mjs, Jochems D, Houwert R M, van Es M A, Leenen Lph, van Wessem Kjp 5 Jan 2022, In: Injury. 53 , p. 1443-1448 6 p.

Author Correction:Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

van Rheenen Wouter, van der Spek Rick A A, Bakker Mark K, van Vugt Joke J F A, Hop Paul J, Zwamborn Ramona A J, de Klein Niek, Westra Harm-Jan, Bakker Olivier B, Deelen Patrick, Shireby Gemma, Hannon Eilis, Moisse Matthieu, Baird Denis, Restuadi Restuadi, Dolzhenko Egor, Dekker Annelot M, Gawor Klara, Westeneng Henk-Jan, Tazelaar Gijs H P, van Eijk Kristel R, Kooyman Maarten, Byrne Ross P, Doherty Mark, Heverin Mark, Al Khleifat Ahmad, Iacoangeli Alfredo, Shatunov Aleksey, Ticozzi Nicola, Cooper-Knock Johnathan, Smith Bradley N, Gromicho Marta, Chandran Siddharthan, Pal Suvankar, Morrison Karen E, Shaw Pamela J, Hardy John, Orrell Richard W, Sendtner Michael, Meyer Thomas, Başak Nazli, van der Kooi Anneke J, Ratti Antonia, Ophoff Roel A, van Es Michael A, Pasterkamp R Jeroen, McLaughlin Russell L, Kenna Kevin P, van den Berg Leonard H, Veldink Jan H, 2022, In: Nature Genetics. 54 , p. 361-361 1 p.

Characterising ALS disease progression according to El Escorial and Gold Coast criteria

de Jongh Adriaan D, Braun Nathalie, Weber Markus, van Es Michael A, Masrori Pegah, Veldink Jan H, van Damme Philip, van den Berg Leonard H, van Eijk Ruben P A 2022, In: Journal of neurology, neurosurgery, and psychiatry. 93 , p. 865-870 6 p.

Discussing Personalized Prognosis Empowers Patients with Amyotrophic Lateral Sclerosis to Regain Control over Their Future:A Qualitative Study

van Eenennaam Remko M, Koppenol Loulou S, Kruithof Willeke J, Kruitwagen-van Reenen Esther T, Pieters Sotice, van Es Michael A, van den Berg Leonard H, Visser-Meily Johanna M A, Beelen Anita Dec 2021, In: Brain sciences. 11 , p. 1-16

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen Wouter, van der Spek Rick A A, Bakker Mark K, van Vugt Joke J F A, Hop Paul J, Zwamborn Ramona A J, de Klein Niek, Westra Harm-Jan, Bakker Olivier B, Deelen Patrick, Shireby Gemma, Hannon Eilis, Moisse Matthieu, Baird Denis, Restuadi Restuadi, Dolzhenko Egor, Dekker Annelot M, Gawor Klara, Westeneng Henk-Jan, Tazelaar Gijs H P, van Eijk Kristel R, Kooyman Maarten, Byrne Ross P, Doherty Mark, Heverin Mark, Al Khleifat Ahmad, Iacoangeli Alfredo, Shatunov Aleksey, Ticozzi Nicola, Cooper-Knock Johnathan, Smith Bradley N, Gromicho Marta, Chandran Siddharthan, Pal Suvankar, Morrison Karen E, Shaw Pamela J, Hardy John, Orrell Richard W, Sendtner Michael, Meyer Thomas, Başak Nazli, van der Kooi Anneke J, Ratti Antonia, Ophoff Roel A, van Es Michael A, Pasterkamp R Jeroen, McLaughlin Russell L, Kenna Kevin P, van den Berg Leonard H, Veldink Jan H, Dec 2021, In: Nature Genetics. 53 , p. 1636-1648 13 p.

Epidemiology of paediatric moderate and severe traumatic brain injury in the Netherlands

Jochems Denise, van Rein Eveline, Niemeijer Menco, van Heijl Mark, van Es Michael A., Nijboer Tanja, Leenen Luke P.H., Houwert Roderick M., van Wessem Karlijn J.P. Nov 2021, In: European Journal of Paediatric Neurology. 35 , p. 123-129 7 p.

Cortical and subcortical changes in resting-state neuronal activity and connectivity in early symptomatic ALS and advanced frontotemporal dementia

Govaarts Rosanne, Beeldman Emma, Fraschini Matteo, Griffa Alessandra, Engels Marjolein M A, van Es Michael A, Veldink Jan H, van den Berg Leonard H, van der Kooi Anneke J, Pijnenburg Yolande A L, de Visser Marianne, Stam Cornelis J, Raaphorst Joost, Hillebrand Arjan Nov 2021, In: NeuroImage. Clinical. 34 , p. 1-9

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