Janel O Johnson
Title
Cited by
Cited by
Year
[alpha]-synuclein locus triplication causes Parkinson's disease
AB Singleton, M Farrer, J Johnson, A Singleton, S Hague, J Kachergus, ...
Science 302 (5646), 841-842, 2003
40442003
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
31582011
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
C Paisán-Ruı́z, S Jain, EW Evans, WP Gilks, J Simón, M Van Der Brug, ...
Neuron 44 (4), 595-600, 2004
21852004
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
JO Johnson, J Mandrioli, M Benatar, Y Abramzon, VM Van Deerlin, ...
Neuron 68 (5), 857-864, 2010
10722010
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ...
The Lancet Neurology 11 (4), 323-330, 2012
8582012
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
JO Johnson, EP Pioro, A Boehringer, R Chia, H Feit, AE Renton, ...
Nature neuroscience 17 (5), 664-666, 2014
3152014
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation
S Hague, E Rogaeva, D Hernandez, C Gulick, A Singleton, M Hanson, ...
Annals of neurology 54 (2), 271-274, 2003
2832003
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
E Rogaeva, J Johnson, AE Lang, C Gulick, K Gwinn-Hardy, T Kawarai, ...
Archives of neurology 61 (12), 1898-1904, 2004
2172004
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
H Houlden, J Johnson, C Gardner-Thorpe, T Lashley, D Hernandez, ...
Nature genetics 39 (12), 1434, 2007
1842007
Graphical system configuration program for material handling
J Johnson, G Koff, M Werner
US Patent 6,832,139, 2004
1652004
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
1552018
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2
DG Hernandez, C Paisán‐Ruíz, A McInerney‐Leo, S Jain, ...
Annals of neurology 57 (3), 453-456, 2005
1232005
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
A Chiň, G Borghero, M Pugliatti, A Ticca, A Calvo, C Moglia, R Mutani, ...
Archives of neurology 68 (5), 594-598, 2011
1102011
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
JO Johnson, JR Gibbs, A Megarbane, JA Urtizberea, DG Hernandez, ...
Brain 135 (9), 2875-2882, 2012
962012
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
JO Johnson, SM Glynn, JR Gibbs, MA Nalls, M Sabatelli, G Restagno, ...
Brain 137 (12), e311-e311, 2014
912014
A genome-wide association study of myasthenia gravis
AE Renton, HA Pliner, C Provenzano, A Evoli, R Ricciardi, MA Nalls, ...
JAMA neurology 72 (4), 396-404, 2015
902015
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies
J Johnson, SM Hague, M Hanson, A Gibson, KE Wilson, EW Evans, ...
Neurology 63 (3), 554-556, 2004
852004
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
Y Abramzon, JO Johnson, SW Scholz, JP Taylor, M Brunetti, A Calvo, ...
Neurobiology of aging 33 (9), 2231. e1-2231. e6, 2012
842012
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ...
Human mutation 34 (10), 1357-1360, 2013
652013
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia
C Marelli, J van de Leemput, JO Johnson, F Tison, C Thauvin-Robinet, ...
Archives of neurology 68 (5), 637-643, 2011
592011
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