-
1
-
-
84862701627
-
Cellular pathways of hereditary spastic paraplegia
-
doi:10.1146/annurev-neuro-062111-150400
-
Blackstone C (2012) Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci. 35:25-47. doi:10.1146/annurev-neuro-062111-150400.
-
(2012)
Annu Rev Neurosci
, vol.35
, pp. 25-47
-
-
Blackstone, C.1
-
2
-
-
84861618858
-
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
-
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, et al. (2012) Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci. 318(1-2):1-18.
-
(2012)
J Neurol Sci
, vol.318
, Issue.1-2
, pp. 1-18
-
-
Finsterer, J.1
Löscher, W.2
Quasthoff, S.3
Wanschitz, J.4
Auer-Grumbach, M.5
-
3
-
-
84893041011
-
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
-
doi:10.1126/science.1247363
-
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, et al. (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 343(6170):506-11. doi:10.1126/science. 1247363.
-
(2014)
Science
, vol.343
, Issue.6170
, pp. 506-511
-
-
Novarino, G.1
Fenstermaker, A.G.2
Zaki, M.S.3
Hofree, M.4
Silhavy, J.L.5
-
4
-
-
77949587649
-
Fast and accurate long-read alignment with Burrows-Wheeler transform
-
Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 26(5):589-95.
-
(2010)
Bioinformatics
, vol.26
, Issue.5
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
5
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 43(5):491-8.
-
(2011)
Nat Genet
, vol.43
, Issue.5
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
-
6
-
-
84860147579
-
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
-
Li MX, Gui HS, Kwan JS, Bao SY, Sham PC (2012) A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res. 40(7):e53.
-
(2012)
Nucleic Acids Res
, vol.40
, Issue.7
-
-
Li, M.X.1
Gui, H.S.2
Kwan, J.S.3
Bao, S.Y.4
Sham, P.C.5
-
7
-
-
84873486397
-
Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies
-
Li MX, Kwan JS, Bao SY, Yang W, Ho SL, et al. (2013) Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies. PLoS Genet. 9(1):e1003143.
-
(2013)
PLoS Genet
, vol.9
, Issue.1
-
-
Li, M.X.1
Kwan, J.S.2
Bao, S.Y.3
Yang, W.4
Ho, S.L.5
-
8
-
-
84865174187
-
Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias
-
doi:10.1002/humu.22148
-
Bettencourt C, Quintáns B, Ros R, Ampuero I, Yáñez Z, et al. (2012) Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias. Hum Mutat. 33(9):1315-23. doi:10.1002/humu.22148.
-
(2012)
Hum Mutat
, vol.33
, Issue.9
, pp. 1315-1323
-
-
Bettencourt, C.1
Quintáns, B.2
Ros, R.3
Ampuero, I.4
Yáñez, Z.5
-
9
-
-
0042622381
-
LGA: A method for finding 3D similarities in protein structures
-
Zemla A (2003) LGA: A method for finding 3D similarities in protein structures. Nucleic Acids Res. 31:3370-3374.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3370-3374
-
-
Zemla, A.1
-
10
-
-
70349847872
-
Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0
-
Dehouck Y, Grosfils A, Folch B, Gilis D, Bogaerts P, et al. (2009) Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0. Bioinformatics. 5(19):2537-43.
-
(2009)
Bioinformatics
, vol.5
, Issue.19
, pp. 2537-2543
-
-
Dehouck, Y.1
Grosfils, A.2
Folch, B.3
Gilis, D.4
Bogaerts, P.5
-
11
-
-
33947517558
-
AGGRESCAN: A server for the prediction and evaluation of "hot spots" of aggregation in polypeptides
-
Conchillo-Solé O, de Groot NS, Avilés FX, Vendrell J, Daura X, et al. (2007) AGGRESCAN: a server for the prediction and evaluation of "hot spots" of aggregation in polypeptides. BMC Bioinformatics. 8:65.
-
(2007)
BMC Bioinformatics
, vol.8
, pp. 65
-
-
Conchillo-Solé, O.1
De Groot, N.S.2
Avilés, F.X.3
Vendrell, J.4
Daura, X.5
-
12
-
-
32144432437
-
The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling
-
DOI 10.1093/bioinformatics/bti770
-
Arnold K, Bordoli L, Kopp J, Schwede T (2006) The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics. 22(2):195-201. (Pubitemid 43205406)
-
(2006)
Bioinformatics
, vol.22
, Issue.2
, pp. 195-201
-
-
Arnold, K.1
Bordoli, L.2
Kopp, J.3
Schwede, T.4
-
13
-
-
0034669774
-
Bayesian probabilistic approach for predicting backbone structures in terms of protein blocks
-
de Brevern AG, Etchebest C, Hazout S (2000) Bayesian probabilistic approach for predicting backbone structures in terms of protein blocks. Proteins. 41(3):271-87.
-
(2000)
Proteins
, vol.41
, Issue.3
, pp. 271-287
-
-
De Brevern, A.G.1
Etchebest, C.2
Hazout, S.3
-
14
-
-
0035137205
-
Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps
-
Strehler E, Zacharias D (2001) Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps. Physiol Rev. 8(1):21-50. (Pubitemid 32096172)
-
(2001)
Physiological Reviews
, vol.81
, Issue.1
, pp. 21-50
-
-
Strehler, E.E.1
Zacharias, D.A.2
-
15
-
-
84877990386
-
Plasma membrane calcium ATPases as novel candidates for therapeutic agent development
-
Strehler E (2013) Plasma membrane calcium ATPases as novel candidates for therapeutic agent development. J Pharm Pharmaceut Sci. 16(2):190-206.
-
(2013)
J Pharm Pharmaceut Sci
, vol.16
, Issue.2
, pp. 190-206
-
-
Strehler, E.1
-
16
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Genomes Project Consortium, doi:10.1038/nature11632
-
Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, et al. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature. 491(7422):56-65. doi:10.1038/nature11632.
-
(2012)
Nature
, vol.491
, Issue.7422
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
-
17
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
DOI 10.1093/nar/gkg509
-
Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31(13):3812-4. (Pubitemid 37442253)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
18
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods. 7(4):248-9.
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
-
19
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 7(8):575-6.
-
(2010)
Nat Methods
, vol.7
, Issue.8
, pp. 575-576
-
-
Schwarz, J.M.1
Rödelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
22
-
-
79952409731
-
Calcium dysregulation and homeostasis of neural calcium in the molecular mechanisms of neurodegenerative diseases provide multiple targets for neuroprotection
-
Zundorf G, Reiser G (2011) Calcium dysregulation and homeostasis of neural calcium in the molecular mechanisms of neurodegenerative diseases provide multiple targets for neuroprotection. Antioxid Redox Signal. 14(7):1275-88.
-
(2011)
Antioxid Redox Signal
, vol.14
, Issue.7
, pp. 1275-1288
-
-
Zundorf, G.1
Reiser, G.2
-
23
-
-
79952405292
-
Neuronal calcium homeostasis and dysregulation
-
Gleichmann M, Mattson MP (2011) Neuronal calcium homeostasis and dysregulation. Antioxid Redox Signal. 14(7):1261-73.
-
(2011)
Antioxid Redox Signal
, vol.14
, Issue.7
, pp. 1261-1273
-
-
Gleichmann, M.1
Mattson, M.P.2
|