Stefan M. Pulst

Q: What Schools Are Affiliated With Stefan M. Pulst

Stefan M. Pulst is affiliated with the following schools: University of Colorado, University of Utah

Stefan M. Pulst's AcademicInfluence.com Rankings

Stefan M. Pulst

Medical

#1488

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#1831

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Neurology

#175

World Rank

#245

Historical Rank

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Why Is Stefan M. Pulst Influential?

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According to Wikipedia, Stefan M. Pulst is Chairman of the Department of Neurology at the University of Utah in Salt Lake City. He trained in neurology at Medizinische Hochschule Hannover in Germany and at Harvard Medical School, Boston, in the Longwood Neurology Program. He was a visiting scientist at the Brain Tumor Center at UCSF, and subsequently a post-doctoral fellow with Earl Mayeri, Ph.D., in the Department of Physiology working on the multi-peptide bag cell transmitter system in Aplysia. He established his laboratory at Cedars-Sinai Medical Center/UCLA in Los Angeles in 1987 focusing on genetic analysis of neurological diseases. He became the Carmen and Lou Warschaw Chair of Neurology at Cedars-Sinai Medical Center in 1990.

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Stefan M. Pulst's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 (1993) (1317)
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 (1996) (1077)
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways (2015) (816)
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 (2000) (490)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
Therapeutic reduction of ataxin 2 extends lifespan and reduces pathology in TDP-43 mice (2017) (365)
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human (2000) (309)
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes (2006) (279)
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. (1992) (271)
The neuroimaging and clinical spectrum of neurofibromatosis 2. (1996) (266)
Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2 (2009) (254)
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. (1990) (248)
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2 (2017) (234)
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. (1997) (233)
A novel protein with RNA-binding motifs interacts with ataxin-2. (2000) (215)
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. (2003) (214)
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1 (2001) (200)
Loss of Miro1-directed mitochondrial movement results in a novel murine model for neuron disease (2014) (184)
Expression of ataxin‐2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2 (1999) (175)
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. (2001) (174)
Neurofibromatosis 2 tumour suppressor schwannomin interacts with βII-spectrin (1998) (164)
Oculomotor phenotypes in autosomal dominant ataxias. (1998) (149)
Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2 (2012) (138)
Generation and characterization of Sca2 (ataxin-2) knockout mice. (2006) (133)
Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. (2003) (132)
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. (2014) (131)
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. (1994) (131)
Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation (1999) (128)
Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. (1997) (127)
Spinocerebellar ataxia type 6 (1997) (124)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias (2014) (120)
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. (2005) (119)
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. (1999) (118)
Genetic linkage analysis. (1999) (112)
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. (1998) (102)
Proteasome Inhibition Triggers Activity-Dependent Increase in the Size of the Recycling Vesicle Pool in Cultured Hippocampal Neurons (2006) (99)
Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. (2005) (99)
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study (2013) (94)
Cellular distribution of torsin A and torsin B in normal human brain. (2001) (93)
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). (2000) (89)
SCA2 trinucleotide expansion in German SCA patients (1997) (88)
Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. (1994) (86)
dAtaxin-2 Mediates Expanded Ataxin-1-Induced Neurodegeneration in a Drosophila Model of SCA1 (2007) (85)
Parkin is associated with actin filaments in neuronal and nonneural cells (2000) (84)
KCNC3: phenotype, mutations, channel biophysics—a study of 260 familial ataxia patients (2010) (82)
Carbon monoxide poisoning with features of Gilles de la Tourette's syndrome. (1983) (79)
The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate. (2000) (79)
Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation. (2014) (76)
Depression and clinical progression in spinocerebellar ataxias. (2016) (75)
Shared predispositions of parkinsonism and cancer: a population-based pedigree-linked study. (2012) (74)
Familial meningioma is not allelic to neurofibromatosis 2 (1993) (74)
Anticipation in spinocerebellar ataxia type 2 (1993) (71)
The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05. (1989) (71)
Neurofibromatosis 2 in the pediatric age group. (1993) (70)
Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. (2002) (69)
Immunohistochemical Detection of Schwannomin and Neurofibromin in Vestibular Schwannomas, Ependymomas and Meningiomas (1997) (69)
Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. (2002) (68)
Ocular Abnormalities in Neurofibromatosis 2 (1995) (66)
Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration (2018) (66)
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. (2004) (64)
Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model (2015) (64)
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia (1998) (63)
Neurofibromatosis 2 in the Pediatric Age Group (1993) (62)
The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. (1998) (60)
Neurofibromatosis 2 antisense oligodeoxynucleotides induce reversible inhibition of schwannomin synthesis and cell adhesion in STS26T and T98G cells. (1996) (59)
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. (2012) (57)
Identification and expression of a mouse ortholog of A2BP1 (2001) (56)
The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the "open" conformation and suppresses cell growth and motility. (2001) (56)
SCA8 repeat expansions in ataxia: A controversial association (2001) (55)
Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death (2007) (54)
Antisense oligonucleotides (2019) (54)
Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis. (2014) (53)
Dissociated Fear and Spatial Learning in Mice with Deficiency of Ataxin-2 (2009) (52)
The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans (2007) (52)
Immunocytochemical characterization of torsin proteins in mouse brain (2001) (50)
Cellular and circuit mechanisms underlying spinocerebellar ataxias (2016) (50)
Oligonucleotide therapeutics in neurodegenerative diseases (2018) (49)
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13) (2011) (48)
Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. (1998) (48)
Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor subunit c (eIF3c). (2006) (48)
Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2 (2017) (47)
Ocular abnormalities in neurofibromatosis 2. (1996) (45)
Clinical Evaluation of Eye Movements in Spinocerebellar Ataxias: A Prospective Multicenter Study (2015) (44)
Phenotypic variability in monozygotic twins with neurofibromatosis 2. (1996) (43)
Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65 (2015) (42)
Down syndrome: toward a molecular definition of the phenotype. (2005) (41)
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
ATXN2‐AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (2016) (40)
Population-based risks for cancer in patients with ALS (2016) (40)
Differential expression and tissue distribution of parkin isoforms during mouse development. (2001) (39)
The evolving genetic risk for sporadic ALS (2017) (39)
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus? (2005) (39)
A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes (1996) (38)
Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate. (2002) (37)
Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations (1996) (37)
Dystonia and ataxia progression in spinocerebellar ataxias. (2017) (37)
Neuronal Expression and Intracellular Localization of Presenilins in Normal and Alzheimer Disease Brains (1997) (36)
Neuroendocrine bag cells of Aplysia are activated by bag cell peptide-containing neurons in the pleural ganglion. (1989) (36)
The Initial Symptom and Motor Progression in Spinocerebellar Ataxias (2017) (35)
Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat (2015) (34)
Neural selectivity, efficiency, and dose equivalence in deep brain stimulation through pulse width tuning and segmented electrodes (2019) (34)
Coenzyme Q10 and spinocerebellar ataxias (2015) (34)
Expression of neurofibromatosis 2 transcript and gene product during mouse fetal development. (1996) (33)
Familial clustering of ALS in a population-based resource (2014) (33)
Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains. (1994) (33)
Spinocerebellar Ataxia Type 2. (2018) (33)
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. (2020) (32)
Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2 (2017) (32)
Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity (2009) (31)
Phenotypic variability associated with Arg26Gln mutation in caveolin3 (2004) (31)
Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2. (2007) (31)
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. (2013) (31)
Thermographic assessment of impaired sympathetic function in peripheral nerve injuries (2004) (30)
Dystonia-associated forms of torsinA are deficient in ATPase activity (2007) (30)
Antisense therapies for movement disorders (2019) (28)
Advances in Neurofibromatosis 2 (NF2): A Workshop Report (2000) (28)
High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons. (1995) (28)
A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2 (2017) (28)
Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12 (1996) (28)
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion (1991) (27)
Genetic analysis of age at onset variation in spinocerebellar ataxia type 2 (2017) (27)
External ophthalmoplegia, alpha and spindle coma in imipramine overdose: Case report and review of the literature (1983) (26)
Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes. (1991) (25)
HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line. (2005) (25)
Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia (2018) (24)
Linkage of familial Alzheimer disease to chromosome 14 in two large early-onset pedigrees: effects of marker allele frequencies on lod scores. (1993) (24)
Relationship of creatine kinase to body composition, disease state, and longevity in ALS (2015) (24)
Identification and expression of the gene for human ataxin-2-related protein on chromosome 16 (2003) (24)
ETS1 regulates the expression of ATXN2. (2012) (24)
The SCA12 mutation as a rare cause of spinocerebellar ataxia. (2001) (24)
Identification of ataxia‐associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids (2009) (23)
Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. (2001) (23)
Stable ring chromosome 21: molecular and clinical definition of the lesion. (1992) (23)
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias (2017) (23)
Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat (2019) (23)
Rippling muscle disease: Evidence for phenotypic and genetic heterogeneity (2001) (23)
Genetic heterogeneity of stably transfected cell lines revealed by expression profiling with oligonucleotide microarrays (2003) (22)
Spinocerebellar Ataxia 2 (SCA2) (2003) (22)
Degenerative ataxias, from genes to therapies (2016) (21)
Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening (2015) (20)
KCNC3R420H , a K+ channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking (2014) (19)
Current Opinions and Consensus for Studying Tremor in Animal Models (2019) (19)
Staufen 1 amplifies proapoptotic activation of the unfolded protein response (2020) (18)
MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias (2018) (18)
Development and anatomic localization of torsinA. (2004) (18)
Spontaneous shaker rat mutant – a new model for X-linked tremor/ataxia (2016) (17)
Effects of Nf2 missense mutations on schwannomin interactions. (2002) (17)
IMmunostaining for peptides of the egg-laying hormone/bag cell peptide precursor protein in the head ganglia of Aplysia (1988) (17)
A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2 (1995) (17)
Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay (2013) (16)
Prenatal diagnosis of the neurofibromatoses. (1990) (15)
Genetics of neurodegenerative diseases (2016) (15)
Clinical and molecular analysis of a pedigree of southern Italian ancestry with spinocerebellar ataxia type 2 (1997) (15)
CA-repeat polymorphism at the D22S430 locus adjacent to NF2. (1993) (14)
Construction and utility of a human chromosome 22-specific Fosmid library. (1995) (14)
Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1 (2020) (14)
The Hereditary Ataxias (1998) (14)
Amyotrophic lateral sclerosis and spinocerebellar ataxia 2 (2011) (14)
Staufen1 in Human Neurodegeneration (2021) (14)
Coexistence of egg-laying hormone and a-bag cell peptide in bag cell neurons of Aplysia indicates that they are a peptidergic multitransmitter system (1986) (14)
Expression of neurofibromin, the neurofibromatosis 1 gene product: Studies in human neuroblastoma cells and rat brain (1992) (14)
Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor (2019) (14)
A high-resolution PAC and BAC map of the SCA2 region. (1997) (14)
ALS-associated genes in SCA2 mouse spinal cord transcriptomes (2020) (12)
Paraneoplastic brainstem encephalitis with acute dystonia and central hypoventilation (2004) (12)
Screening for mutations in synaptotagmin XI in Parkinson's disease. (2004) (12)
Familial aggregation of Parkinson disease in Utah (2016) (12)
Dystonia (DYT) genetic loci. (2005) (12)
Genetics of Movement Disorders (2002) (12)
Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13) (2013) (11)
The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. (2020) (11)
Ataxin-2 mediated cell death is dependent on domains downstream of the polyQ repeat (2007) (11)
Message from the Editors to our Reviewers (2012) (11)
[Neurologic complications in acquired immunodeficiency syndrome (AIDS). A clinical, computer tomographic and neuropathologic case presentation with a review of the literature]. (1984) (10)
Neurogenetics: single gene disorders (2003) (10)
Characterization and expression of presenilin 1 in mouse brain. (1996) (10)
Ethical issues in DNA testing (2000) (10)
Atypical parkinsonism in a family of Portuguese ancestry (1997) (9)
A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration (2016) (9)
Electrical inexcitability of nerves and muscles in severe infantile spinal muscular atrophy (1999) (8)
Introduction to Medical Genetics and Methods of DNA Testing (2003) (8)
The complex structure of ATXN2 genetic variation (2018) (8)
Consensus Paper: Strengths and Weaknesses of Animal Models of Spinocerebellar Ataxias and Their Clinical Implications (2021) (8)
Inherited Ataxias: An Introduction (2003) (8)
Presence of immunoreactive α-bag cell peptide[1–8] in bag cell neurons of Aplysia suggests novel carboxypeptidase processing of neuropeptides (1987) (8)
Ataxias on the march from Quebec to Tunisia (2000) (8)
Spinocerebellar ataxia type 13 (2012) (7)
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community (2020) (7)
[Antisense therapies for neurological diseases]. (2019) (7)
Dinucleotide repeat polymorphism at the D22S351 locus. (1993) (7)
Segmental unilateral lentiginosis in generalized neurofibromatosis type 1. (2002) (7)
Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis (2021) (6)
Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies (2022) (6)
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. (2020) (6)
Cholecystokinin 1 receptor activation restores normal mTORC1 signaling and is protective to Purkinje cells of SCA mice (2021) (6)
Ataxia rating scales in the balance (2007) (6)
Erratum: A novel protein with RNA-binding motifs interacts with ataxin-2 (Human Molecular Genetics (2000) vol.9 (1303-1313)) (2000) (6)
Vascular Risk Factors and Clinical Progression in Spinocerebellar Ataxias (2015) (6)
Repolarization matters: Mutations in the Kv4.3 potassium channel cause SCA19/22 (2012) (5)
Staufen blocks autophagy in neurodegeneration (2019) (5)
Loss of alleles in vestibular schwannomas: use of microsatellite markers on chromosome 22. (1993) (5)
Neurodegenerative disease: Genetic discrimination in Huntington disease (2009) (5)
A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected]. (1995) (5)
Primary Tumors of the Nervous System (2015) (5)
Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN2 CAG Repeat Alleles (2016) (4)
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. (1991) (4)
RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2 (2021) (4)
Detecting and Quantifying Ataxia-Related Motor Impairments in Rodents Using Markerless Motion Tracking With Deep Neural Networks (2020) (4)
Receptor protein tyrosine phosphatases control Purkinje neuron firing (2019) (4)
DNA microarray analysis of immediate response to EGF treatment in rat schwannoma cells (2005) (3)
The AKT modulator A-443654 reduces α-synuclein expression and normalizes ER stress and autophagy (2021) (3)
Co-expression networks in generation of induced pluripotent stem cells (2014) (3)
Panel of aneuploid cell lines for physical mapping of the proximal long arm of human chromosome 21. (2005) (3)
Teaching NeuroImages: Meningoencephalocele and CSF leak in chronic idiopathic intracranial hypertension (2016) (3)
Neurofibromatose versus schwannomatose (1998) (3)
The Hereditary Disease Array Group (HDAG) - Microarrays, Models and Mechanisms : A Collaboration Update (2001) (3)
Spinal schwannomatosis (1997) (3)
C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias (2018) (3)
Potentiation of BCNU-induced cytotoxicity and sister chromatid exchanges by dibromodulcitol in vitro. (1990) (3)
Clinical Reasoning: A 22-year-old man with diplopia (2017) (3)
Schematic representation of NF-1 clinical features in German. (1989) (2)
Relative order and location of DNA sequences on chromosome 21 linked to familial Alzheimer disease. (1991) (2)
Welcome to Neurology: Genetics (2015) (2)
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic (2017) (2)
Genomes, neuroscience, and neurology. (2001) (2)
Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas (2004) (2)
Staufen 1 amplifies proapoptotic activation of the unfolded protein response (2019) (2)
Current Opinions and Consensus for Studying Tremor in Animal Models (2019) (2)
A new EcoRI polymorphism at the D21S13 locus (1990) (2)
84 Comparison of Different Paper Assays for Antibody Crossreactivity. (1986) (2)
Bethlem Myopathy in a Black Creole Pedigree (2002) (2)
Computational investigation of the impact of deep brain stimulation contact size and shape on neural selectivity (2021) (2)
Comprar Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias | Stefan-M. Pulst | 9780750675031 | Butterworth Heinemann (2007) (2)
Two different genetic diseases in the same patient: Coincident, concomitant, or causally related? (2016) (2)
Clinical Characteristics of Spinocerebellar Ataxias 1, 2, 3 and 6 (S12.002) (2012) (2)
Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6 (2020) (2)
Message from the Editors to our Reviewers (2016) (2)
SCA13 (2008) (2)
A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2 (2004) (2)
The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17 (1990) (2)
Chapter 23 – Spinocerebellar Ataxia Type 2 (2006) (1)
Spotlight on the June 2015 issue (2015) (1)
Incontinentia Pigmenti (IP) (2003) (1)
Neurofibromatosis 2 Gene (2002) (1)
In Vitro Cytotoxic Effects of Dibromodulcitol in 9L Rat Brain Tumor Cells (1986) (1)
Ethical Issues in Genetic Testing for Movement Disorders (2003) (1)
Message from the Editors to our Reviewers (2016) (1)
Ataxin-2 in the hypothalamus at the crossroads between metabolism and clock genes. (2022) (1)
Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat. (2023) (1)
A new HaeIII polymorphism at the D21S13 locus (1990) (1)
Genetic map of the spinocerebellar ataxia type 2 (SCA2) region on chromosome 12 (1994) (1)
Distinct Functional Effects of Kv3.3 Mutations Associated with Spinocerebellar Ataxia Type 13 (2009) (1)
A lot of nexts (2015) (1)
[Neurofibromatosis versus schwannomatosis]. (1998) (1)
Targeting ATXN2 Using Antisense Oligonucleotides as a Treatment for Spinocerebellar Ataxia Type 2 (SCA2) (S30.007) (2016) (1)
CHAPTER K4 – Spinocerebellar Ataxia Type 2 (SCA2) (2005) (1)
Deep Cerebellar Stimulation to Treat Degenerative Cerebellar Ataxias (S18.004) (2018) (1)
Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. (1995) (1)
Chapter 5 Polyglutamine Ataxias: In Vitro and In Vivo Models (2007) (1)
Treatment Of Spinocerebellar Ataxia Type 2 (SCA2) with MOE Antisense Oligonucleotides (S47.006) (2014) (1)
The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. (2022) (1)
Staufen Impairs Autophagy in Neurodegeneration (2022) (1)
Antisense oligonucleotides for the treatment of spinocerebellar ataxia type 2 (SCA2) (S32.002) (2015) (1)
IN73-FR-01 Ion channels in degenerative ataxias: causative mutations, genetic modifiers and targets for treatment (2009) (0)
TP73 Is an Amyotrophic Lateral Sclerosis Candidate Risk Gene (S25.006) (2018) (0)
Hypomelanosis of Ito (2003) (0)
ProteasomeInhibitionTriggersActivity-DependentIncrease intheSizeoftheRecyclingVesiclePoolinCultured HippocampalNeurons (2006) (0)
Sodium-Potassium ATPase Inhibitors as Inhibitors of ATXN2 Expression (P1.046) (2014) (0)
[The diagnosis of neurofibromatosis]. (1991) (0)
Current Genomics: Foreword (2001) (0)
Expression Profiling of Cell Lines Expressing Regulated NP2 Transcripts (2004) (0)
Pub-Med-dot-com, here we come! (2016) (0)
NF2 in Hrs-Mediated Signal Transduction (2000) (0)
ATXN2 Is Regulated by a Promoter Associated Antisense Long Noncoding RNA (lncRNA) (P05.030) (2013) (0)
Message from the Editors to our Reviewers (2018) (0)
Message From the Editors to Our Reviewers (2020) (0)
Message from the Editors to our Reviewers (2020) (0)
Message from the Editors to our Reviewers (2019) (0)
ATXN2 antisense therapy improves SCA2 mouse motor and Purkinje cell electrophysiological phenotypes. (S17.001) (2017) (0)
ATAXIN-2 (ATXN2) Regulates RGS8 Expression Via RNA Interaction (P1.045) (2014) (0)
AD Award Number : DAMD 1799-1-9548 TITLE : NF 2 in Hrs-Mediated Signal Transduction (0)
Coenzyme Q10, Statin, and Spinocerebellar Ataxias (P6.047) (2014) (0)
What does phenotype have to do with it? (2017) (0)
Prior Molecular Diagnostic Accuracy and Age of Disease Onset Variation in the CRC-SCA, a Multicenter Study of Spinocerebellar Ataxias (S12.003) (2012) (0)
Genetic discrimination in Huntington disease (2012) (0)
Editorial Board (2007) (0)
Advanced Gene-Targeting Methods to Generate Cell Line Models that Preserve Native Regulatory Elements for Efficient High-Throughput Drug Screenings (2017) (0)
2016 in Review and Message from the Editors to our Reviewers (2017) (0)
Juvenile parkinsonism. (2009) (0)
Message from the Editors to our Reviewers (2018) (0)
Generation Of Alpha Synuclein (SNCA) Cell Models For High-Throughput Drug Screening Using Zinc-Finger Nuclease Technology (P1.044) (2014) (0)
in severe infantile spinal muscular atrophy Electrical inexcitability of nerves and muscles (0)
Ion channels in degenerative ataxias: Causative mutations, genetic modifiers and targets for treatment (2009) (0)
1-29-12 Clinical, genetic and molecular studies in spinocerebellar ataxia type 2 (1997) (0)
Effects of STAU1/staufen1 on autophagy in neurodegenerative diseases. (2023) (0)
MFN2 Influences Amyotrophic Lateral Sclerosis Pathology (2021) (0)
Brain Tumors, Genetics (2003) (0)
Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease (1991) (0)
Mouse Models of HRS-NF2 Interaction (2006) (0)
What Determines Disease Severity in the Spinocerebellar Ataxias (2008) (0)
Reply (2003) (0)
Correction: Staufen 1 amplifies proapoptotic activation of the unfolded protein response (2021) (0)
The RNA‐binding protein and stress granule component ATAXIN‐2 is expressed in mouse and human tissues associated with glaucoma pathogenesis (2021) (0)
[Neurofibromatosis: current clinical and molecular genetic aspects from the neurologic viewpoint]. (1991) (0)
[Diagnosis of von Recklinghausen's neurofibromatosis]. (1989) (0)
2018: Year in Review and Message from the Editors to Our Reviewers (2019) (0)
Slc9a6 mutation causes Purkinje cell loss and ataxia in the spontaneous shaker rat (2022) (0)
Author response: A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2 (2017) (0)
Investigation of RAN Translation in SCA2 (P05.043) (2013) (0)
The Initial Symptom and Motor Progression in Spinocerebellar Ataxias (2016) (0)
Neurology: Genetics Year in Review (2021) (0)
State neurologic societies and the AAN: Strengthening neurology for the future (2014) (0)
NeuronsSpontaneous EPSCs in Cultured Cortical - Effect of Conantokin G on NMDA Receptor (2015) (0)
Defining the impact of deep brain stimulation contact size and shape on neural selectivity (2020) (0)
The Role of Staufen1 in Aberrant RNA Metabolism in SCA2 (P6.396) (2016) (0)
Loss of TP73 function contributes to amyotrophic lateral sclerosis pathogenesis (2018) (0)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias (2013) (0)
Diagnosed in the Autoimmune Neurology Clinic: Two patients with different phenotypes of spinocerebellar ataxia type 27 (P10-5.014) (2023) (0)
Message from the Editors to our Reviewers (2017) (0)
Table 2. [Proportion of Individuals with SCA2...]. (2015) (0)
Characterization of Analytic and Experimental Uncertainty of RNA-seq Co-expression Network Determination: Application to SCA2 (2020) (0)
Regional Variation of Causative ALS Genes (P2.069) (2014) (0)
Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN 2 CAG Repeat Alleles AMeta-analysis (2014) (0)
Coenzyme Q10, Statin, and Spinocerebellar Ataxias (I11-1.008) (2014) (0)
NF2 in monozygotic twins. (2000) (0)
New Mission, New Reviews, New Word Counts, Oh My! (2022) (0)
Neurology® Genetics Acknowledgment to Reviewers (2022) (0)
Spinocerebellar Ataxia Type 2 (SCA2) Spinal Cord Transcriptome Sequencing Informs Understanding on ALS (S18.005) (2018) (0)
Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map (1996) (0)
Coexpression networks predict ataxia genes. (2014) (0)
Identification of candidate Parkinson’s disease predisposition genes in high-risk pedigrees (S42.001) (2023) (0)
2017 Year in Review and Message from the Editors to Our Reviewers (2018) (0)
The Cerebellum and its Disorders: Spinocerebellar ataxia type 2 (2001) (0)
Double mutants for Huntington and spinocerebellar ataxia type 2 in a large pedigree segregating both mutations (2000) (0)
Clinical impact of C9orf72 repeat expansion in Spinocerebellar Ataxias (P2.128) (2015) (0)
Identification of Splicing Changes in the Blood and Muscle in Congenital Myotonic Dystrophy (P4.110) (2015) (0)
Evidence for a Genetic Contribution to ALS Mortality in a Population-Based Resource (P01.093) (2012) (0)
Paraneoplastic Cerebellar Degeneration Associated with Purkinje Cell Cytoplasmic Antibodies Type I and Sjogren Syndrome with Diffusion Restriction on MRI (P06.009) (2012) (0)
Table 1. [Molecular Genetic Testing Used in SCA2]. (2015) (0)
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias (2023) (0)
Helix: October 2016 issue (2016) (0)
Spinocerebellar ataxia type 2 (SCA2) (2020) (0)
Targeting Staufen 1 with antisense oligonucleotides for treating ALS and SCA2 (2022) (0)
Molecular map of chromosome 21 mental retardation (1991) (0)
Spinocerebellar Ataxia 11 (SCA11) (2003) (0)
Table 3. [ATXN2 Allelic Variants Discussed in This GeneReview]. (2015) (0)
Collaboration, workshops, and symposia (2017) (0)
Rapid generation of induced pluripotent stem cells from lymphoblastoid cell lines using an episomal plasmid containing multiple reprogramming factors in a single cassette (matisse reprogramming system) (2014) (0)
Decision letter: Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1 (2018) (0)
Message from the Editors to our Reviewers (2019) (0)
Meta-Analysis of ALS Risk for Ataxin-2 (SCA2) CAG Repeat Alleles (P2.070) (2014) (0)
Correction: Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening (2021) (0)
A quantitative high-throughput screen identifies compounds that lower expression of the SCA2-and ALS-associated gene ATXN2 (2022) (0)
Message from the Editors to our Reviewers (2018) (0)
Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration (2018) (0)
184. The expanding world of ataxias (2000) (0)
The Helix: Editorial Changes (2020) (0)
The Initial Clinical Presentation of Spinocerebellar Ataxias Type 1, 2, 3, and 6 (P6.393) (2016) (0)
Movement Disorders in Autosomal Dominant Spinocerebellar Ataxias: A Prospective Multicenter NIH Cohort Study (S43.001) (2013) (0)
Rapid Generation of Induced Pluripotent Stem Cells from Lymphoblastoid Cell Lines Using an Episomal Plasmid Containing Multiple Reprogramming Factors in a Single Cassette (P05.046) (2013) (0)
The Helix: Editorial Changes (2020) (0)
Carotid thrombosis following blunt trauma to the neck in motor vehicle accidents (1983) (0)
Neurology: Genetics Acknowledgment to Reviewers (2021) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Spinocerebellar Ataxia Type 13]. (2012) (0)
Cholecystokinin 1 Receptor (Cck1R) Normalizes mTORC1 signaling and is Protective to Purkinje cells of SCA Mice (2021) (0)
Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor (2019) (0)
Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias (2023) (0)
Splicing Control of Pontocerebellar Development (2021) (0)

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