World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
72
Citations
20099
World Ranking
2115
National Ranking
961

Research.com Recognitions

  • 2020 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Stefan M. Pulst is affiliated with the University of Utah in the United States. The scientist's research spans fields such as Biochemistry, Genetics and Molecular Biology, Medicine, and Neuroscience, with a particular focus on Molecular Biology, Cellular and Molecular Neuroscience, Neurology, Genetics, and Epidemiology. Their work addresses topics including Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Amyotrophic Lateral Sclerosis Research, Neurological disorders and treatments, RNA Research and Splicing, Neurogenetic and Muscular Disorders Research, and Parkinson's Disease Mechanisms and Treatments.

Recent papers authored or coauthored by the scientist include the following:

  • BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain (2020), published in Cell Systems
  • Neural selectivity, efficiency, and dose equivalence in deep brain stimulation through pulse width tuning and segmented electrodes (2020), published in Brain Stimulation
  • Staufen 1 amplifies proapoptotic activation of the unfolded protein response (2020), published in Cell Death and Differentiation
  • Staufen1 in Human Neurodegeneration (2021), published in Annals of Neurology
  • The AKT modulator A-443654 reduces α-synuclein expression and normalizes ER stress and autophagy (2021), published in Journal of Biological Chemistry

Frequent coauthors include:

  • Daniel R. Scoles
  • Sharan Paul
  • Karla P. Figueroa
  • Warunee Dansithong
  • Mandi Gandelman

The scientist has frequently published in venues such as:

  • Neurology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Neurology Genetics
  • The Cerebellum
  • Journal of Biological Chemistry

Stefan M. Pulst has also authored a book titled Trials for Cerebellar Ataxias, published in 2023 by Springer International Publishing.

Among formal recognitions, the scientist was named a Fellow of the American Association for the Advancement of Science (AAAS) in 2020.

Best Publications

  • Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

    Guy A. Rouleau;Philippe Merel;Mohini Lutchman;Marc Sanson;Marc Sanson

  • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

    Stefan M. Pulst;Alex Nechiporuk;Alex Nechiporuk;Tamilla Nechiporuk;Tamilla Nechiporuk;Suzana Gispert

  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Elizabeth T. Cirulli;Brittany N Lasseigne;Slave Petrovski;Peter C Sapp

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

    Tohru Matsuura;Tohru Matsuura;Takanori Yamagata;Daniel L. Burgess;Astrid Rasmussen

  • Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

    Lindsay A. Becker;Brenda Huang;Gregor Bieri;Rosanna Ma

  • Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region

    Kouzin Kamino;Harry T. Orr;Haydeh Payami;Ellen M. Wijsman

  • Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.

    Duong P. Huynh;Karla Figueroa;Nam Hoang;Stefan M. Pulst

  • Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

    Julie R. Korenberg;Hiroko Kawashima;Stefan M. Pulst;T. Ikeuchi

  • Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

    Michael F. Waters;Ngatali A. Minassian;Giovanni Stevanin;Karla P. Figueroa

  • Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

    Daniel R. Scoles;Pratap Meera;Matthew D. Schneider;Sharan Paul

  • Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

    Jing Liu;Tie Shan Tang;Huiping Tu;Huiping Tu;Omar Nelson

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

    Daniel H. Geschwind;Susan Perlman;Carla P. Figueroa;Lucy J. Treiman

  • The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI

    Duong P. Huynh;Daniel R. Scoles;Dung Nguyen;Stefan M. Pulst;Stefan M. Pulst

  • A novel protein with RNA-binding motifs interacts with ataxin-2

    Hiroki Shibata;Duong P. Huynh;Stefan M. Pulst

  • Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1

    Rui M. Costa;Tao Yang;Duong P. Huynh;Stefan M. Pulst

  • Loss of Miro1-directed mitochondrial movement results in a novel murine model for neuron disease

    Tammy T. Nguyen;Sang S. Oh;David Weaver;Agnieszka Lewandowska

  • Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety.

    V F Mautner;M Tatagiba;M Lindenau;C Fünsterer

  • Expression of Ataxin-2 in Brains from Normal Individuals and Patients with Alzheimer's Disease and Spinocerebellar Ataxia 2

    Duong P. Huynh;Marc R. Del Bigio;Diane H. Ho;Stefan M. Pulst

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

Frequent Co-Authors

Susan Perlman
Susan Perlman University of California, Los Angeles
Vikram G. Shakkottai
Vikram G. Shakkottai The University of Texas Southwestern Medical Center
Christopher M. Gomez
Christopher M. Gomez University of Chicago
Tetsuo Ashizawa
Tetsuo Ashizawa Houston Methodist
Henry L. Paulson
Henry L. Paulson University of Michigan–Ann Arbor
Jeremy D. Schmahmann
Jeremy D. Schmahmann Harvard Medical School
Sheng-Han Kuo
Sheng-Han Kuo Columbia University Medical Center
Julie R. Korenberg
Julie R. Korenberg University of Utah
Thomas S. Otis
Thomas S. Otis University College London
Alexis Brice
Alexis Brice Institut du Cerveau

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring Genetics in the USA can open doors to a variety of health science careers. Many professionals choose to supplement their genetics background by pursuing nursing qualifications online. For instance, students interested in advanced practice roles might consider online fnp programs—a path that builds on your science foundation and leads to becoming a family nurse practitioner.

If you’re looking for the cheapest way to become a nurse, several accredited online programs offer rigorous education at accessible prices. Registered nurses aiming to advance their degrees efficiently may opt for rn to bsn online cheap and fast pathways, allowing you to quickly gain advanced skills while balancing work and study.

For those seeking the highest credentials in nursing, consider the best dnp programs online. These doctoral-level programs can intersect with genetics research and healthcare leadership, making them ideal for aspiring leaders in genetic medicine. Each pathway offers the flexibility and value needed to carve out a successful career at the intersection of genetics and healthcare.

Best Scientists Citing Stefan M. Pulst

Trending Scientists