Unusually mild Tuberous Sclerosis phenotype is associated with TSC2 R905Q mutation

AC (An) Jansen; O (Ozgur) Sancak; MD D'Agostino; A Badhwar; P Roberts; G Gobbi; R Wilkinson; D Melanson; D Tampieri; R Koenekoop; M Gans; JA Maat-Kievit; MA (Miriam) Goedbloed; Ans van den Ouweland; Mark Nellist; M Pandolfo; M McQueen; K Sims; EA Thiele; F Dubeau; F Andermann; DJ Kwiatkowski; Dicky Halley; E Andermann

doi:10.1002/ana.21037

Unusually mild Tuberous Sclerosis phenotype is associated with TSC2 R905Q mutation

AC (An) Jansen
, O (Ozgur) Sancak
, MD D'Agostino
, A Badhwar
, P Roberts
, G Gobbi
, R Wilkinson
, D Melanson
, D Tampieri
, R Koenekoop
, M Gans
, JA Maat-Kievit
, MA (Miriam) Goedbloed
, Ans van den Ouweland
, Mark Nellist
, M Pandolfo
, M McQueen
, K Sims
, EA Thiele
, F Dubeau

F Andermann, DJ Kwiatkowski, Dicky Halley, E Andermann

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

90 Citations (Scopus)

Original language	English
Pages (from-to)	528-539
Number of pages	12
Journal	Annals of Neurology
Volume	60
Issue number	5
DOIs	https://doi.org/10.1002/ana.21037
Publication status	Published - 2006

Research programs

EMC MGC-02-96-01

Access to Document

10.1002/ana.21037

http://hdl.handle.net/1765/60032

Cite this

Jansen, AC., Sancak, O., D'Agostino, MD., Badhwar, A., Roberts, P., Gobbi, G., Wilkinson, R., Melanson, D., Tampieri, D., Koenekoop, R., Gans, M., Maat-Kievit, JA., Goedbloed, MA., van den Ouweland, A., Nellist, M., Pandolfo, M., McQueen, M., Sims, K., Thiele, EA., ... Andermann, E. (2006). Unusually mild Tuberous Sclerosis phenotype is associated with TSC2 R905Q mutation. Annals of Neurology, 60(5), 528-539. https://doi.org/10.1002/ana.21037

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title = "Unusually mild Tuberous Sclerosis phenotype is associated with TSC2 R905Q mutation",

author = "Jansen, \{AC (An)\} and Sancak, \{O (Ozgur)\} and MD D'Agostino and A Badhwar and P Roberts and G Gobbi and R Wilkinson and D Melanson and D Tampieri and R Koenekoop and M Gans and JA Maat-Kievit and Goedbloed, \{MA (Miriam)\} and \{van den Ouweland\}, Ans and Mark Nellist and M Pandolfo and M McQueen and K Sims and EA Thiele and F Dubeau and F Andermann and DJ Kwiatkowski and Dicky Halley and E Andermann",

year = "2006",

doi = "10.1002/ana.21037",

language = "English",

volume = "60",

pages = "528--539",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley \& Sons Inc.",

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Jansen, AC, Sancak, O, D'Agostino, MD, Badhwar, A, Roberts, P, Gobbi, G, Wilkinson, R, Melanson, D, Tampieri, D, Koenekoop, R, Gans, M, Maat-Kievit, JA, Goedbloed, MA, van den Ouweland, A, Nellist, M, Pandolfo, M, McQueen, M, Sims, K, Thiele, EA, Dubeau, F, Andermann, F, Kwiatkowski, DJ, Halley, D & Andermann, E 2006, 'Unusually mild Tuberous Sclerosis phenotype is associated with TSC2 R905Q mutation', Annals of Neurology, vol. 60, no. 5, pp. 528-539. https://doi.org/10.1002/ana.21037

TY - JOUR

T1 - Unusually mild Tuberous Sclerosis phenotype is associated with TSC2 R905Q mutation

AU - Jansen, AC (An)

AU - Sancak, O (Ozgur)

AU - D'Agostino, MD

AU - Badhwar, A

AU - Roberts, P

AU - Gobbi, G

AU - Wilkinson, R

AU - Melanson, D

AU - Tampieri, D

AU - Koenekoop, R

AU - Gans, M

AU - Maat-Kievit, JA

AU - Goedbloed, MA (Miriam)

AU - van den Ouweland, Ans

AU - Nellist, Mark

AU - Pandolfo, M

AU - McQueen, M

AU - Sims, K

AU - Thiele, EA

AU - Dubeau, F

AU - Andermann, F

AU - Kwiatkowski, DJ

AU - Halley, Dicky

AU - Andermann, E

PY - 2006

Y1 - 2006

U2 - 10.1002/ana.21037

DO - 10.1002/ana.21037

M3 - Article

C2 - 17120248

SN - 0364-5134

VL - 60

SP - 528

EP - 539

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -