2020 - Fellow of the American Association for the Advancement of Science (AAAS)
His research on Gene frequently links to adjacent areas such as Trinucleotide repeat expansion. Many of his studies involve connections with topics such as C9orf72 and Trinucleotide repeat expansion. Stefan M. Pulst integrates many fields in his works, including C9orf72 and Amyotrophic lateral sclerosis. Stefan M. Pulst performs integrative Amyotrophic lateral sclerosis and Gene research in his work. Stefan M. Pulst performs multidisciplinary studies into Genetics and Bioinformatics in his work. Stefan M. Pulst performs multidisciplinary study on Bioinformatics and Genetics in his works. He applies his multidisciplinary studies on Disease and Cause of death in his research. With his scientific publications, his incorporates both Cause of death and Death certificate. Death certificate is often connected to Internal medicine in his work.
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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.
Nature Genetics (1996)
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Elizabeth T. Cirulli;Brittany N Lasseigne;Slave Petrovski;Peter C Sapp.
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
Tohru Matsuura;Tohru Matsuura;Takanori Yamagata;Daniel L. Burgess;Astrid Rasmussen.
Nature Genetics (2000)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi.
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.
American Journal of Human Genetics (1992)
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.
Nature Genetics (2000)
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.
American Journal of Human Genetics (1990)
The neuroimaging and clinical spectrum of neurofibromatosis 2.
Victor Felix Mautner;Matthias Lindenau;Michael E. Baser;Wasim Hazim.
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