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Guy M Lenk

Showing results (21-30 of 45) with videos related to

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Journal of Cell Science|March 30, 2019
Correction: The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation (doi:10.1242/jcs.229500)Christin Bissig, Pauline Croisé, Xavier Heiligenstein, et al.
Journal of Cell Science|February 3, 2019
The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formationChristin Bissig, Pauline Croisé, Xavier Heiligenstein, et al.
The Journal of Clinical Investigation|April 20, 2021
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse modelMaximiliano Presa, Rachel M Bailey, Crystal Davis, et al.
Scientific Reports|July 5, 2019
CRISPR knockout screen implicates three genes in lysosome functionGuy M Lenk, Young N Park, Rosemary Lemons, et al.
BMC Medical Genetics|January 21, 2011
Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19John H Lillvis, Yoshiki Kyo, Gerard Tromp, et al.
Bipolar Disorders|April 5, 2013
C9ORF72 expansion in a family with bipolar disorderMiriam H Meisler, Adrienne E Grant, Julie M Jones, et al.
American Journal of Human Genetics|June 14, 2016
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological DiseaseGuy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, et al.
Plos Genetics|June 10, 2011
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4JGuy M Lenk, Cole J Ferguson, Clement Y Chow, et al.
HGG Advances|July 3, 2024
A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variantsRebecca Meyer-Schuman, Allison R Cale, Jennifer A Pierluissi, et al.
Biorxiv : the Preprint Server for Biology|April 8, 2024
Predictive modeling provides insight into the clinical heterogeneity associated with <i>TARS1</i> loss-of-function mutationsRebecca Meyer-Schuman, Allison R Cale, Jennifer A Pierluissi, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Journal of Cell Science|March 30, 2019
Correction: The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation (doi:10.1242/jcs.229500)Christin Bissig, Pauline Croisé, Xavier Heiligenstein, et al.
Journal of Cell Science|February 3, 2019
The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formationChristin Bissig, Pauline Croisé, Xavier Heiligenstein, et al.
The Journal of Clinical Investigation|April 20, 2021
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse modelMaximiliano Presa, Rachel M Bailey, Crystal Davis, et al.
Scientific Reports|July 5, 2019
CRISPR knockout screen implicates three genes in lysosome functionGuy M Lenk, Young N Park, Rosemary Lemons, et al.
BMC Medical Genetics|January 21, 2011
Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19John H Lillvis, Yoshiki Kyo, Gerard Tromp, et al.
Bipolar Disorders|April 5, 2013
C9ORF72 expansion in a family with bipolar disorderMiriam H Meisler, Adrienne E Grant, Julie M Jones, et al.
American Journal of Human Genetics|June 14, 2016
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological DiseaseGuy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, et al.
Plos Genetics|June 10, 2011
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4JGuy M Lenk, Cole J Ferguson, Clement Y Chow, et al.
HGG Advances|July 3, 2024
A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variantsRebecca Meyer-Schuman, Allison R Cale, Jennifer A Pierluissi, et al.
Biorxiv : the Preprint Server for Biology|April 8, 2024
Predictive modeling provides insight into the clinical heterogeneity associated with <i>TARS1</i> loss-of-function mutationsRebecca Meyer-Schuman, Allison R Cale, Jennifer A Pierluissi, et al.
Pageof 5