-
1
-
-
80052924149
-
Motor neuron dysfunction in frontotemporal dementia
-
PID: 21840887
-
Burrell JR, Kiernan MC, Vucic S, Hodges JR (2011) Motor neuron dysfunction in frontotemporal dementia. Brain 134:2582–2594
-
(2011)
Brain
, vol.134
, pp. 2582-2594
-
-
Burrell, J.R.1
Kiernan, M.C.2
Vucic, S.3
Hodges, J.R.4
-
2
-
-
84255175951
-
SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis
-
COI: 1:CAS:528:DC%2BC3MXhs1CqurfJ, PID: 22190360
-
Fecto F, Siddique T (2011) SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis. Ann Neurol 70:867–870
-
(2011)
Ann Neurol
, vol.70
, pp. 867-870
-
-
Fecto, F.1
Siddique, T.2
-
3
-
-
79955774490
-
Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis
-
PID: 21047878
-
Byrne S, Walsh C, Lynch C et al (2011) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 82:623–627
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, pp. 623-627
-
-
Byrne, S.1
Walsh, C.2
Lynch, C.3
-
4
-
-
77955396350
-
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
-
COI: 1:CAS:528:DC%2BC3cXhtFGmsrbF, PID: 20577002
-
Millecamps S, Salachas F, Cazeneuve C et al (2010) SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet 47:554–560
-
(2010)
J Med Genet
, vol.47
, pp. 554-560
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
-
5
-
-
84893649256
-
State of play in amyotrophic lateral sclerosis genetics
-
COI: 1:CAS:528:DC%2BC3sXhvFylsrbM, PID: 24369373
-
Renton AE, Chiò A, Traynor BJ (2014) State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17:17–23
-
(2014)
Nat Neurosci
, vol.17
, pp. 17-23
-
-
Renton, A.E.1
Chiò, A.2
Traynor, B.J.3
-
6
-
-
77952555551
-
Large scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis
-
PID: 19965850
-
van Es MA, Dahlberg C, Birve A, Veldink JH, van den Berg LH, Andersen PM (2010) Large scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 81:562–566
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 562-566
-
-
van Es, M.A.1
Dahlberg, C.2
Birve, A.3
Veldink, J.H.4
van den Berg, L.H.5
Andersen, P.M.6
-
7
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
COI: 1:CAS:528:DC%2BD1MXit1eltbw%3D, PID: 19251627
-
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL et al (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205–1208
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski, T.J.1
Bosco, D.A.2
Leclerc, A.L.3
-
8
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
-
COI: 1:CAS:528:DC%2BC38XksFWltbo%3D, PID: 22406228
-
Majounie E, Renton AE, Mok K et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11:323–330
-
(2012)
Lancet Neurol
, vol.11
, pp. 323-330
-
-
Majounie, E.1
Renton, A.E.2
Mok, K.3
-
9
-
-
84907092012
-
Methyl pyruvate rescues mitochondrial damage caused by SIGMAR1 mutation related to amyotrophic lateral sclerosis
-
COI: 1:CAS:528:DC%2BC2cXhsVOhtrrN, PID: 25175561
-
Tagashira H, Shinoda Y, Shioda N, Fukunaga K (2014) Methyl pyruvate rescues mitochondrial damage caused by SIGMAR1 mutation related to amyotrophic lateral sclerosis. Biochim Biophys Acta 1840:3320–3334
-
(2014)
Biochim Biophys Acta
, vol.1840
, pp. 3320-3334
-
-
Tagashira, H.1
Shinoda, Y.2
Shioda, N.3
Fukunaga, K.4
-
10
-
-
84900832142
-
Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research
-
COI: 1:CAS:528:DC%2BC2cXot1yntr0%3D, PID: 24488689
-
Su XW, Broach JR, Connor JR, Gerhard GS, Simmons Z (2014) Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research. Muscle Nerve 49:786–803
-
(2014)
Muscle Nerve
, vol.49
, pp. 786-803
-
-
Su, X.W.1
Broach, J.R.2
Connor, J.R.3
Gerhard, G.S.4
Simmons, Z.5
-
11
-
-
78249273602
-
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease
-
COI: 1:CAS:528:DC%2BC3cXhsFOnsrbM, PID: 21031579
-
Luty AA, Kwok JB, Dobson-Stone C et al (2010) Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol 68:639–649
-
(2010)
Ann Neurol
, vol.68
, pp. 639-649
-
-
Luty, A.A.1
Kwok, J.B.2
Dobson-Stone, C.3
-
12
-
-
35549006797
-
Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca (2+) signaling and cell survival
-
COI: 1:CAS:528:DC%2BD2sXhtlWitrzK, PID: 17981125
-
Hayashi T, Su TP (2007) Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca (2+) signaling and cell survival. Cell 131:596–610
-
(2007)
Cell
, vol.131
, pp. 596-610
-
-
Hayashi, T.1
Su, T.P.2
-
13
-
-
84863612666
-
Expression of a truncated form of the endoplasmic reticulum chaperone protein, σ1 receptor, promotes mitochondrial energy depletion and apoptosis
-
COI: 1:CAS:528:DC%2BC38XpvVejsbY%3D, PID: 22619170
-
Shioda N, Ishikawa K, Tagashira H, Ishizuka T, Yawo H, Fukunaga K (2012) Expression of a truncated form of the endoplasmic reticulum chaperone protein, σ1 receptor, promotes mitochondrial energy depletion and apoptosis. J Biol Chem 287:23318–23331
-
(2012)
J Biol Chem
, vol.287
, pp. 23318-23331
-
-
Shioda, N.1
Ishikawa, K.2
Tagashira, H.3
Ishizuka, T.4
Yawo, H.5
Fukunaga, K.6
-
14
-
-
77950858460
-
The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study
-
COI: 1:CAS:528:DC%2BC3cXksVehsLk%3D
-
Mavlyutov TA, Epstein ML, Andersen KA, Ziskind-Conhaim L, Ruoho AE (2010) The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study. Neurosci 167:247–255
-
(2010)
Neurosci
, vol.167
, pp. 247-255
-
-
Mavlyutov, T.A.1
Epstein, M.L.2
Andersen, K.A.3
Ziskind-Conhaim, L.4
Ruoho, A.E.5
-
15
-
-
33645062075
-
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
-
COI: 1:STN:280:DC%2BD287nsVeltA%3D%3D, PID: 16421333
-
Morita M, Al-Chalabi A, Andersen PM et al (2006) A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 66:839–844
-
(2006)
Neurology
, vol.66
, pp. 839-844
-
-
Morita, M.1
Al-Chalabi, A.2
Andersen, P.M.3
-
16
-
-
84872493515
-
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia
-
COI: 1:CAS:528:DC%2BC3sXht1CksLw%3D, PID: 22739338
-
Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA (2013) Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. Eur J Hum Genet 21:237–239
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 237-239
-
-
Belzil, V.V.1
Daoud, H.2
Camu, W.3
Strong, M.J.4
Dion, P.A.5
Rouleau, G.A.6
-
17
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
COI: 1:CAS:528:DC%2BC3MXhtlKrtL%2FI, PID: 21944779
-
Renton AE, Majounie E, Waite A et al (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72:257–268
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
-
18
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
COI: 1:CAS:528:DC%2BC3MXhtlKrtL%2FP, PID: 21944778
-
DeJesus-Hernandez M, Mackenzie IR, Boeve BF et al (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245–256
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
-
19
-
-
84921881089
-
Amyotrophic lateral sclerosis—cell based therapy and novel therapeutic development
-
PID: 25258567
-
Kim C, Lee HC, Sung JJ (2014) Amyotrophic lateral sclerosis—cell based therapy and novel therapeutic development. Exp Neurobiol 23:207–214
-
(2014)
Exp Neurobiol
, vol.23
, pp. 207-214
-
-
Kim, C.1
Lee, H.C.2
Sung, J.J.3
-
20
-
-
8844280819
-
A combined linkage-physical map of the human genome
-
COI: 1:CAS:528:DC%2BD2cXhtVegsrbF, PID: 15486828
-
Kong X, Murphy K, Raj T, He C, White PS, Matise TC (2004) A combined linkage-physical map of the human genome. Am J Hum Genet 75(6):1143–1148
-
(2004)
Am J Hum Genet
, vol.75
, Issue.6
, pp. 1143-1148
-
-
Kong, X.1
Murphy, K.2
Raj, T.3
He, C.4
White, P.S.5
Matise, T.C.6
-
21
-
-
38949099775
-
A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2
-
PID: 18071751
-
Hassan MJ, Chishti MS, Jamal SM, Tariq M, Ahmad W (2008) A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. Hum Genet 123:77–82
-
(2008)
Hum Genet
, vol.123
, pp. 77-82
-
-
Hassan, M.J.1
Chishti, M.S.2
Jamal, S.M.3
Tariq, M.4
Ahmad, W.5
-
22
-
-
84884197513
-
An enhanced computational platform for investigating the roles of regulatory RNA and for identifying functional RNA motifs
-
COI: 1:CAS:528:DC%2BC3sXisVyrt70%3D
-
Chang TH, Huang HY, Hsu JB, Weng SL, Horng JT, Huang HD (2013) An enhanced computational platform for investigating the roles of regulatory RNA and for identifying functional RNA motifs. BMC bioinformatics 14(2):S4
-
(2013)
BMC bioinformatics
, vol.14
, Issue.2
, pp. S4
-
-
Chang, T.H.1
Huang, H.Y.2
Hsu, J.B.3
Weng, S.L.4
Horng, J.T.5
Huang, H.D.6
-
23
-
-
84155163741
-
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis
-
COI: 1:CAS:528:DC%2BC3MXhs1CqurfI, PID: 21842496
-
Al-Saif A, Al-Mohanna F, Bohlega S (2011) A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol 70:913–919
-
(2011)
Ann Neurol
, vol.70
, pp. 913-919
-
-
Al-Saif, A.1
Al-Mohanna, F.2
Bohlega, S.3
-
24
-
-
84876686599
-
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis
-
COI: 1:CAS:528:DC%2BC3sXltFCms78%3D, PID: 23338750
-
Dobson-Stone C, Luty AA, Thompson EM et al (2013) Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. Acta Neuropathol 125(4):523–533
-
(2013)
Acta Neuropathol
, vol.125
, Issue.4
, pp. 523-533
-
-
Dobson-Stone, C.1
Luty, A.A.2
Thompson, E.M.3
|