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1 . Academic Journal
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
저자
by
Logullo, Francesco O.
;
Simone, Isabella
;
Logroscino, Giancarlo
;
Salvi, Fabrizio
;
Bartolomei, Ilaria
, et al.
소스
In
Neuron
21 March 2018 97(6):1267-1288
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7 . Academic Journal
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
저자
by
Chiò, Adriano
;
Mora, Gabriele
;
Sabatelli, Mario
;
Caponnetto, Claudia
;
Lunetta, Christian
, et al.
소스
In
Neurobiology of Aging
March 2016 39:218-218
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7 . Academic Journal
HFE p.H63D polymorphism does not influence ALS phenotype and survival
저자
by
Chiò, Adriano
;
Mora, Gabriele
;
Sabatelli, Mario
;
Caponnetto, Claudia
;
Lunetta, Christian
, et al.
소스
In
Neurobiology of Aging
October 2015 36(10):2906-2906
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7 . Academic Journal
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
저자
by
Chiò, Adriano
;
Mora, Gabriele
;
Sabatelli, Mario
;
Caponnetto, Claudia
;
Traynor, Bryan J.
, et al.
소스
In
Neurobiology of Aging
April 2015 36(4):1767-1767
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7 . Academic Journal
A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD
저자
by
Rollinson, Sara
;
Bennion Callister, Janis
;
Young, Kate
;
Ryan, Sarah J.
;
Druyeh, Ronald
, et al.
소스
In
Neurobiology of Aging
March 2015 36(3):1601-1601
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7 . Academic Journal
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
저자
by
Abramzon, Yevgeniya
;
Johnson, Janel O.
;
Scholz, Sonja W.
;
Taylor, J.P.
;
Brunetti, Maura
, et al.
소스
In
Neurobiology of Aging
September 2012 33(9):2231-2231
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7 . Academic Journal
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
저자
by
Johnson, Janel O.
;
Chia, Ruth
;
Miller, Danny E.
;
Li, Rachel
;
Kumaran, Ravindran
, et al.
소스
JAMA Neurology; Oct2021, Vol. 78 Issue 10, p1236-1248, 13p
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7 . Academic Journal
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
저자
by
Bott, Laura C.
;
Forouhan, Mitra
;
Lieto, Maria
;
Sala, Ambre J.
;
Ellerington, Ruth
, et al.
소스
Brain Communications; 2021, Vol. 3 Issue 4, p1-14, 14p
Open Access (OUP)
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7 . Academic Journal
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
저자
by
Sullivan, Jeremy M.
;
Motley, William W.
;
Johnson, Janel O.
;
Aisenberg, William H.
;
Marshall, Katherine L.
, et al.
소스
Journal of Clinical Investigation
. Mar2020, Vol. 130 Issue 3, p1506-1512. 7p.
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7 . Academic Journal
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
저자
by
Caress, James B.
;
Johnson, Janel O.
;
Abramzon, Yevgeniya A.
;
Hawkins, Gregory A.
;
Gibbs, J. Raphael
, et al.
소스
Muscle & Nerve
. Nov2017, Vol. 56 Issue 5, p1001-1005. 5p.
Full Text (Wiley)
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