Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Conceição Bettencourt; Justo García de Yébenes; José Luis López-Sendón; Orr Shomroni; Xingqian Zhang; Shu-Bing Qian; Ingrid M C Bakker; Sasja Heetveld; Raquel Ros; Beatriz Quintáns; María-Jesús Sobrido; Marianna R Bevova; Shushant Jain; Marianna Bugiani; Peter Heutink; Patrizia Rizzu

doi:10.1007/s12311-014-0643-7

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Conceição Bettencourt, Justo García de Yébenes, José Luis López-Sendón, Orr Shomroni, Xingqian Zhang, Shu-Bing Qian, Ingrid M C Bakker, Sasja Heetveld, Raquel Ros, Beatriz Quintáns, María-Jesús Sobrido, Marianna R Bevova, Shushant Jain, Marianna Bugiani, Peter Heutink, Patrizia Rizzu

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

33 Citations (Scopus)

Original language	English
Pages (from-to)	378-81
Number of pages	4
Journal	Cerebellum
Volume	14
Issue number	3
DOIs	https://doi.org/10.1007/s12311-014-0643-7
Publication status	Published - Jun-2015

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Bettencourt, C., de Yébenes, J. G., López-Sendón, J. L., Shomroni, O., Zhang, X., Qian, S.-B., Bakker, I. M. C., Heetveld, S., Ros, R., Quintáns, B., Sobrido, M.-J., Bevova, M. R., Jain, S., Bugiani, M., Heutink, P., & Rizzu, P. (2015). Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. Cerebellum, 14(3), 378-81. https://doi.org/10.1007/s12311-014-0643-7

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title = "Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1",

author = "Concei{\c c}{\~a}o Bettencourt and {de Y{\'e}benes}, {Justo Garc{\'i}a} and L{\'o}pez-Send{\'o}n, {Jos{\'e} Luis} and Orr Shomroni and Xingqian Zhang and Shu-Bing Qian and Bakker, {Ingrid M C} and Sasja Heetveld and Raquel Ros and Beatriz Quint{\'a}ns and Mar{\'i}a-Jes{\'u}s Sobrido and Bevova, {Marianna R} and Shushant Jain and Marianna Bugiani and Peter Heutink and Patrizia Rizzu",

year = "2015",

month = jun,

doi = "10.1007/s12311-014-0643-7",

language = "English",

volume = "14",

pages = "378--81",

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Bettencourt, C, de Yébenes, JG, López-Sendón, JL, Shomroni, O, Zhang, X, Qian, S-B, Bakker, IMC, Heetveld, S, Ros, R, Quintáns, B, Sobrido, M-J, Bevova, MR, Jain, S, Bugiani, M, Heutink, P & Rizzu, P 2015, 'Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1', Cerebellum, vol. 14, no. 3, pp. 378-81. https://doi.org/10.1007/s12311-014-0643-7

TY - JOUR

T1 - Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

AU - Bettencourt, Conceição

AU - de Yébenes, Justo García

AU - López-Sendón, José Luis

AU - Shomroni, Orr

AU - Zhang, Xingqian

AU - Qian, Shu-Bing

AU - Bakker, Ingrid M C

AU - Heetveld, Sasja

AU - Ros, Raquel

AU - Quintáns, Beatriz

AU - Sobrido, María-Jesús

AU - Bevova, Marianna R

AU - Jain, Shushant

AU - Bugiani, Marianna

AU - Heutink, Peter

AU - Rizzu, Patrizia

PY - 2015/6

Y1 - 2015/6

U2 - 10.1007/s12311-014-0643-7

DO - 10.1007/s12311-014-0643-7

M3 - Article

C2 - 25592071

SN - 1473-4222

VL - 14

SP - 378

EP - 381

JO - Cerebellum

JF - Cerebellum

IS - 3

ER -