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Johnson, Janel O.
136
results:
Search for persons
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Online (136)
Mediatypes
Articles (Online) (89)
Bookchapter (Online) (1)
OpenAccess-fulltext (46)
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?
1
Variants in ATP6V0A1 cause progressive myoclonus epilepsy a..:
Bott, Laura C
;
Forouhan, Mitra
;
Lieto, Maria
...
Brain Communications. 3 (2021) 4 - p. , 2021
Link:
https://doi.org/10.1093/..
?
2
Exome sequencing establishes a gelsolin mutation as the cau..:
Caress, James B.
;
Johnson, Janel O.
;
Abramzon, Yevgeniya A.
...
Muscle & Nerve. 56 (2017) 5 - p. 1001-1005 , 2017
Link:
https://doi.org/10.1002/..
?
3
ATNX2 is not a regulatory gene in Italian amyotrophic later..:
Chiò, Adriano
;
Mora, Gabriele
;
Sabatelli, Mario
...
Neurobiology of Aging. 39 (2016) - p. 218.e5-218.e8 , 2016
Link:
https://doi.org/10.1016/..
?
4
A small deletion in C9orf72 hides a proportion of expansion..:
Rollinson, Sara
;
Bennion Callister, Janis
;
Young, Kate
...
Neurobiology of Aging. 36 (2015) 3 - p. 1601.e1-1601.e5 , 2015
Link:
https://doi.org/10.1016/..
?
5
CHCH10 mutations in an Italian cohort of familial and spora..:
Chiò, Adriano
;
Mora, Gabriele
;
Sabatelli, Mario
...
Neurobiology of Aging. 36 (2015) 4 - p. 1767.e3-1767.e6 , 2015
Link:
https://doi.org/10.1016/..
?
6
HFE p.H63D polymorphism does not influence ALS phenotype an..:
Chiò, Adriano
;
Mora, Gabriele
;
Sabatelli, Mario
...
Neurobiology of Aging. 36 (2015) 10 - p. 2906.e7-2906.e11 , 2015
Link:
https://doi.org/10.1016/..
?
7
A 7.5‐Mb duplication at chromosome 11q21‐11q22.3 is associa..:
Johnson, Janel O.
;
Stevanin, Giovanni
;
van de Leemput, Joyce
...
Movement Disorders. 30 (2014) 2 - p. 262-266 , 2014
Link:
https://doi.org/10.1002/..
?
8
Mutations in the CHCHD10 gene are a common cause of familia..:
Johnson, Janel O.
;
Glynn, Shannon M.
;
Gibbs, J. Raphael
...
Brain. 137 (2014) 12 - p. e311-e311 , 2014
Link:
https://doi.org/10.1093/..
?
9
Mutations in the Matrin 3 gene cause familial amyotrophic l..:
ITALSGEN
;
Johnson, Janel O
;
Pioro, Erik P
...
Nature Neuroscience. 17 (2014) 5 - p. 664-666 , 2014
Link:
https://doi.org/10.1038/..
?
10
A candidate gene for autoimmune myasthenia gravis:
Landouré, Guida
;
Knight, Melanie A.
;
Stanescu, Horia
...
Neurology. 79 (2012) 4 - p. 342-347 , 2012
Link:
https://doi.org/10.1212/..
?
11
Exome sequencing identifies a novel TRPV4 mutation in a CMT..:
Landouré, Guida
;
Sullivan, Jeremy M.
;
Johnson, Janel O.
...
Neurology. 79 (2012) 2 - p. 192-194 , 2012
Link:
https://doi.org/10.1212/..
?
12
Frequency of the C9orf72 hexanucleotide repeat expansion in..:
Majounie, Elisa
;
Renton, Alan E
;
Mok, Kin
...
The Lancet Neurology. 11 (2012) 4 - p. 323-330 , 2012
Link:
https://doi.org/10.1016/..
?
13
Exome sequencing reveals riboflavin transporter mutations a..:
Johnson, Janel O.
;
Gibbs, J. Raphael
;
Megarbane, Andre
...
Brain. 135 (2012) 9 - p. 2875-2882 , 2012
Link:
https://doi.org/10.1093/..
?
14
Valosin-containing protein (VCP) mutations in sporadic amyo..:
Abramzon, Yevgeniya
;
Johnson, Janel O.
;
Scholz, Sonja W.
...
Neurobiology of Aging. 33 (2012) 9 - p. 2231.e1-2231.e6 , 2012
Link:
https://doi.org/10.1016/..
?
15
Exome sequencing in an SCA14 family demonstrates its utilit..:
Sailer, Anna
;
Scholz, Sonja W.
;
Gibbs, J. Raphael
...
Neurology. 79 (2012) 2 - p. 127-131 , 2012
Link:
https://doi.org/10.1212/..
1-15