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Author/Creator Distel, Ben

1. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020)

Authors:
Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021)

Authors:
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
445
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Issue 6 (19th February 2021)

Authors:
Bossuyt, Stijn N V; Punt, A Mattijs; de Graaf, Ilona J; van den Burg, Janny; Williams, Mark G; Heussler, Helen; Elgersma, Ype; Distel, Ben
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 6(2021)
Page Start:
430
Record Type:
Journal Article
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4. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020)

Authors:
Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot–Marie–Tooth disease 2P. (15th March 2017)

Authors:
Hakonen, Johanna E.; Sorrentino, Vincenzo; Avagliano Trezza, Rossella; de Wissel, Marit B.; van den Berg, Marlene; Bleijlevens, Boris; van Ruissen, Fred; Distel, Ben; Baas, Frank; Zelcer, Noam; Weterman, Marian A.J.
Journal:
Human molecular genetics
Issue:
Volume 26:Number 11(2017:Jun. 01)
Page Start:
2034
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗