Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias
Matilla-Dueñas, A., Ashizawa, T., Brice, A., Magri, S., McFarland, K. N., Pandolfo, M., Pulst, S. M., Riess, O., Rubinsztein, D. C., Schmidt, J., Schmidt, T., Scoles, D. R., Stevanin, G., Taroni, F., Underwood, B. R., Sánchez, I.
Published in Cerebellum (London, England) (01.04.2014)
Published in Cerebellum (London, England) (01.04.2014)
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Journal Article
Conference Proceeding
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human
Pulst, Stefan-M, Huynh, Duong P, Figueroa, Karla, Hoang, Nam
Published in Nature genetics (01.09.2000)
Published in Nature genetics (01.09.2000)
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Journal Article
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations
Geschwind, D H, Perlman, S, Figueroa, K P, Karrim, J, Baloh, R W, Pulst, S M
Published in Neurology (01.11.1997)
Published in Neurology (01.11.1997)
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Journal Article
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
Waters, M F, Fee, D, Figueroa, K P, Nolte, D, Müller, U, Advincula, J, Coon, H, Evidente, V G, Pulst, S M
Published in Neurology (11.10.2005)
Published in Neurology (11.10.2005)
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Journal Article
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
Pulst, Stefan-M, Nechiporuk, Alex, Nechiporuk, Tamilla, Gispert, Suzana, Chen, Xiao-Ning, Lopes-Cendes, Iscia, Pearlman, Susan, Starkman, Sidney, Orozco-Diaz, Guillermo, Lunkes, Astrid, DeJong, Pieter, Rouleau, Guy A, Auburger, Georg, Korenberg, Julie R, Figueroa, Carla, Sahba, Soodabeh
Published in Nature genetics (01.11.1996)
Published in Nature genetics (01.11.1996)
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Journal Article
Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation
Simon, D K, Pulst, S M, Sutton, J P, Browne, S E, Beal, M F, Johns, D R
Published in Neurology (10.11.1999)
Published in Neurology (10.11.1999)
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Journal Article
SCA8 repeat expansions in ataxia: a controversial association
Sobrido, M J, Cholfin, J A, Perlman, S, Pulst, S M, Geschwind, D H
Published in Neurology (09.10.2001)
Published in Neurology (09.10.2001)
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Journal Article
Cag repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
HAYES, S, TURECKI, G, BRISEBOIS, K, LOPES-CENDES, I, GASPAR, C, RIESS, O, RANUM, L. P. W, PULST, S.-M, ROULEAU, G. A
Published in Human molecular genetics (22.07.2000)
Published in Human molecular genetics (22.07.2000)
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Journal Article
Neurofibromatosis 2 tumour suppressor schwannomin interacts with βII-spectrin
Scoles, Daniel R, Huynh, Duong P, Morcos, Paul A, Coulsell, Eric R, Robinson, Nicole G.G, Tamanoi, Fuyuhiko, Pulst, Stefan M
Published in Nature genetics (01.04.1998)
Published in Nature genetics (01.04.1998)
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Journal Article
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
GESCHWIND, D. H, PERLMAN, S, FIGUEROA, C. P, TREIMAN, L. J, PULST, S. M
Published in American journal of human genetics (01.04.1997)
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Published in American journal of human genetics (01.04.1997)
Journal Article
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia
Grewal, R P, Tayag, E, Figueroa, K P, Zu, L, Durazo, A, Nunez, C, Pulst, S M
Published in Neurology (01.11.1998)
Published in Neurology (01.11.1998)
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Journal Article
Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety [published erratum appears in AJR Am J Roentgenol 1996 May;166(5):1231]
Mautner, VF, Tatagiba, M, Lindenau, M, Funsterer, C, Pulst, SM, Baser, ME, Kluwe, L, Zanella, FE
Published in American journal of roentgenology (1976) (01.10.1995)
Published in American journal of roentgenology (1976) (01.10.1995)
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Journal Article
Mapping of a New Autosomal Dominant Spinocerebellar Ataxia to Chromosome 22
Zu, Lan, Figueroa, Karla P., Grewal, Raji, Pulst, Stefan-M.
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Journal Article
Ocular Abnormalities in Neurofibromatosis 2
RAGGE, NICOLA K., BASER, MICHAEL E., KLEIN, JANA, NECHIPORUK, ALEX, SAINZ, JESUS, PULST, STEFAN-M., RICCARDI, VINCENT M.
Published in American journal of ophthalmology (01.11.1995)
Published in American journal of ophthalmology (01.11.1995)
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Journal Article
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
Sainz, J, Huynh, D P, Figueroa, K, Ragge, N K, Baser, M E, Pulst, S M
Published in Human molecular genetics (01.06.1994)
Published in Human molecular genetics (01.06.1994)
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Journal Article
The Mouse SCA2 Gene: cDNA Sequence, Alternative Splicing and Protein Expression
Nechiporuk, Tamilla, Huynh, Duong P., Figueroa, Karla, Sahba, Soodabeh, Nechiporuk, Alex, Pulst, Stefan-M.
Published in Human molecular genetics (01.08.1998)
Published in Human molecular genetics (01.08.1998)
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