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Lenk, Guy M.
~ 400  Ergebnisse:
Personensuche X
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1

Biallelic loss-of-function variants of SLC12A9 cause lysoso..:

Accogli, Andrea ; Park, Young N. ; Lenk, Guy M....
Genetics in Medicine.  26 (2024)  5 - p. 101097 , 2024
Link: https://doi.org/10.1016/..
 
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2

Altered phenotypes due to genetic interaction between the m..:

Cao, Xu ; Lenk, Guy M ; Meisler, Miriam H.
G3: Genes, Genomes, Genetics.  13 (2023)  8 - p. , 2023
Link: https://doi.org/10.1093/..
 
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3

The chloride antiporter CLCN7 is a modifier of lysosome dys..:

Cao, Xu ; Lenk, Guy M. ; Mikusevic, Vedrana...
PLOS Genetics.  19 (2023)  6 - p. e1010800 , 2023
Link: https://doi.org/10.1371/..
 
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4

Chloroquine corrects enlarged lysosomes in FIG4 null cells ..:

Lenk, Guy M. ; Meisler, Miriam H.
Molecular Genetics and Metabolism.  137 (2022)  4 - p. 382-387 , 2022
Link: https://doi.org/10.1016/..
 
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5

Scn8a Antisense Oligonucleotide Is Protective in Mouse Mode..:

Lenk, Guy M. ; Jafar‐Nejad, Paymaan ; Hill, Sophie F....
Annals of Neurology.  87 (2020)  3 - p. 339-346 , 2020
Link: https://doi.org/10.1002/..
 
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6

Cerebral hypomyelination associated with biallelic variants..:

Lenk, Guy M. ; Berry, Ian R. ; Stutterd, Chloe A....
Human Mutation.  40 (2019)  5 - p. 619-630 , 2019
Link: https://doi.org/10.1002/..
 
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7

VAC14 Gene‐Related Parkinsonism‐Dystonia With Response to D..:

de Gusmao, Claudio M. ; Stone, Scellig ; Waugh, Jeff L....
Movement Disorders Clinical Practice.  6 (2019)  6 - p. 494-497 , 2019
Link: https://doi.org/10.1002/..
 
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8

CRISPR knockout screen implicates three genes in lysosome f..:

Lenk, Guy M. ; Park, Young N. ; Lemons, Rosemary...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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9

Protective role of the lipid phosphatase Fig4 in the adult ..:

Mironova, Yevgeniya A ; Lin, Jing-Ping ; Kalinski, Ashley L...
Human Molecular Genetics.  27 (2018)  14 - p. 2443-2453 , 2018
Link: https://doi.org/10.1093/..
 
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10

PI(3,5)P2 biosynthesis regulates oligodendrocyte differenti..:

Mironova, Yevgeniya A ; Lenk, Guy M ; Lin, Jing-Ping...
eLife.  5 (2016)  - p. , 2016
Link: https://doi.org/10.7554/..
 
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11

Rescue of neurodegeneration in theFig4null mouse by a catal..:

Lenk, Guy M. ; Frei, Christen M. ; Miller, Ashley C....
Human Molecular Genetics.  25 (2015)  2 - p. 340-347 , 2015
Link: https://doi.org/10.1093/..
 
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12

Response:

Menezes, Manoj P. ; Waddell, Leigh ; Lenk, Guy M....
Neuromuscular Disorders.  25 (2015)  4 - p. 360 , 2015
Link: https://doi.org/10.1016/..
 
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13

Loss of Fig4 in both Schwann cells and motor neurons contri..:

Vaccari, Ilaria ; Carbone, Antonietta ; Previtali, Stefano Carlo...
Human Molecular Genetics.  24 (2014)  2 - p. 383-396 , 2014
Link: https://doi.org/10.1093/..
 
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14

Role of the phosphoinositide phosphataseFIG4gene in familia..:

Baulac, Stéphanie ; Lenk, Guy M. ; Dufresnois, Béatrice...
Neurology.  82 (2014)  12 - p. 1068-1075 , 2014
Link: https://doi.org/10.1212/..
 
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15

Whole exome sequencing identifies three recessive FIG4 muta..:

Menezes, Manoj P. ; Waddell, Leigh ; Lenk, Guy M....
Neuromuscular Disorders.  24 (2014)  8 - p. 666-670 , 2014
Link: https://doi.org/10.1016/..
 
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