Author

S. M. Pulst

Observed names: S M Pulst, S Pulst, S. -M. Pulst, S. Pulst, S.-M. Pulst, S.M. Pulst, Stefan M.-Pulst

Observed institutions: Cedars-Sinai Medical Center, University of California, Los Angeles, Asklepios Klinik St. Georg

OpenAlex ID: A5110111052

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.

1997 · D H Geschwind, S Perlman, et al. · PubMed · 237

Stable ring chromosome 21: Molecular and clinical definition of the lesion

1992 · T. C. Falik‐Borenstein, T. M. Pribyl, et al. · American Journal of Medical Genetics · 91

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

1998 · R. P. Grewal, E. Tayag, et al. · Neurology · 69

Down syndrome: Toward a molecular definition of the phenotype

2005 · Julie R. Korenberg, Hiroko Kawashima, et al. · American Journal of Medical Genetics · 40

Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias

2009 · Giovanni Stévanin, Sylvie Forlani, et al. · 8

Loss of Alleles in Vestibular Schwannomas: Use of Microsatellite Markers on Chromosome 22

1993 · J. Sainz, M. E. Baser, et al. · Archives of Otolaryngology - Head and Neck Surgery · 7

Dinucleotide repeat polymorphism at the D22S351 locus

1993 · J. Sainz, M. Rasmussen, et al. · Human Molecular Genetics · 7

Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease

1991 · S. -M. Pulst, P. Fain, et al. · Human Genetics · 3

Clinical Characteristics of Spinocerebellar Ataxias 1, 2, 3 and 6 (S12.002)

2012 · T. Ashizawa, S. Perlman, et al. · Neurology · 2

Erratum: A novel protein with RNA-binding motifs interacts with ataxin-2 (Human Molecular Genetics (2000) vol.9 (1303-1313))

2000 · Hiroki Shibata, Duong P. Huynh, et al. · Human Molecular Genetics · 2

Schematic representation of NF-1 clinical features in German.

1989 · V F Mautner, S Pulst · PubMed · 2

[Neurofibromatosis: current clinical and molecular genetic aspects from the neurologic viewpoint].

1991 · V F Mautner, S Laute, et al. · PubMed · 1

Prior Molecular Diagnostic Accuracy and Age of Disease Onset Variation in the CRC-SCA, a Multicenter Study of Spinocerebellar Ataxias (S12.003)

2012 · K. Figueroa, C. Gomez, et al. · Neurology

Prevention in neurology

1992 · A. O. Ceballos-Baumann, A. Wagner, et al. · Springer eBooks

Molecular map of chromosome 21 mental retardation

1991 · Julie R. Korenberg, T C Falik Borenstein, et al.

Works count: 15

Citation count: 469

H-index: 7

I10-index: 4