-
1
-
-
0025237394
-
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy
-
Hentati F, Ben Hamida C. H ereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain. 1990; 113:347-63.
-
(1990)
Brain
, vol.113
, pp. 347-363
-
-
Hentati, F.1
Ben Hamida, C.2
-
2
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase
-
Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase. Nat Genet. 1995; 10:61-6.
-
(1995)
Nat Genet
, vol.10
, pp. 61-66
-
-
Andersen, P.M.1
Nilsson, P.2
Ala-Hurula, V.3
Keranen, M.L.4
Tarvainen, I.5
Haltia, T.6
-
3
-
-
80755133370
-
Clinical genetics of amyotrophic lateral sclerosis: What do we really know
-
Andersen PM, Al-Chalabi A. C linical genetics of amyotrophic lateral sclerosis: what do we really know Nat Rev Neurol. 2011; 7:603-15.
-
(2011)
Nat Rev Neurol
, vol.7
, pp. 603-615
-
-
Andersen, P.M.1
Al-Chalabi, A.2
-
4
-
-
77952570883
-
Four familial ALS pedigrees discordant for two SOD1 mutations: Are all SOD1 mutations pathogenic
-
Felbecker A, Camu W, Waldmanis PN, Sperfeld A D, Waibel S, Steinbach P, et al. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic J Neurol Neurosurg Psychiatry. 2010; 81:572-7.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 572-577
-
-
Felbecker, A.1
Camu, W.2
Waldmanis, P.N.3
Sperfeld, A.D.4
Waibel, S.5
Steinbach, P.6
-
5
-
-
6344257200
-
A mutation in the vesicletraffi cking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura AL, Mitne-Neto M, Silva H C, Richieri-Costa A, Middelton S, Cascio D, et al. A mutation in the vesicletraffi cking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004; 75:822-31.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 822-831
-
-
Nishimura, A.L.1
Mitne-Neto, M.2
Silva, H.C.3
Richieri-Costa, A.4
Middelton, S.5
Cascio, D.6
-
6
-
-
33845348169
-
Expanding the phenotypes of the Pro56Ser VAPB mutation: Proximal SMA with dysautonomia
-
Marques V D, Barreira AA, Davis M B, Abou-Sleiman PM, Silva WA Jr, Zago MA, et al. Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. Muscle Nerve. 2006; 34:731-9.
-
(2006)
Muscle Nerve
, vol.34
, pp. 731-739
-
-
Marques, V.D.1
Barreira, A.A.2
Davis, M.B.3
Abou-Sleiman, P.M.4
Silva Jr., W.A.5
Zago, M.A.6
-
7
-
-
77950170203
-
The p.P56S mutation in the VAPB gene is not due to a single founder: The first European case
-
Funke A D, Esser M, Krü ttgen A, Weis J, Mittne-Neto M, Lazar M, et al. The p.P56S mutation in the VAPB gene is not due to a single founder: the fi rst European case. Clin Genet. 2010; 77:302-3.
-
(2010)
Clin Genet
, vol.77
, pp. 302-303
-
-
Funke Ad, E.1
-
8
-
-
77955396350
-
SOD1 ANG VAPB TARDBP and FUS mutations in familial amyotrophic lateral sclerosis: Genotype-phenotype correlations
-
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet. 2010; 47:554-60.
-
(2010)
J Med Genet
, vol.47
, pp. 554-560
-
-
Millecamps, S.1
Salachas, F.2
Cazeneuve, C.3
Gordon, P.4
Bricka, B.5
Camuzat, A.6
-
9
-
-
41649090538
-
New VAPB deletion variant and exclusion of VAPB mutations in familial ALS
-
Landers J E, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, et al. New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. Neurology. 2008; 70:1179-85.
-
(2008)
Neurology
, vol.70
, pp. 1179-1185
-
-
Landers, J.E.1
Leclerc, A.L.2
Shi, L.3
Virkud, A.4
Cho, T.5
Maxwell, M.M.6
-
10
-
-
0033534788
-
Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMPassociated) proteins
-
Nishimura Y, Hayashi M, Inada H, Tanaka T. M olecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMPassociated) proteins. Biochem Biophys Res Commun. 1999; 254:21-6.
-
(1999)
Biochem Biophys Res Commun
, vol.254
, pp. 21-26
-
-
Nishimura, Y.1
Hayashi, M.2
Inada, H.3
Tanaka, T.4
-
11
-
-
0032528227
-
Identifi cation of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): A broadly expressed protein that binds to VAMP
-
W eir M L, Klip A, Trimble W S. I dentifi cation of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP. Biochem J. 1998; 333:247-51.
-
(1998)
Biochem J
, vol.333
, pp. 247-251
-
-
Weir, M.L.1
Klip, A.2
Trimble, W.S.3
-
12
-
-
0033606771
-
ERG30 a VAP-33-related protein functions in protein transport mediated by COPI vesicles
-
Soussan L, Burakov D, Daniels M P, Toister-Achituv M, Porat A, Yarden Y, et al. ERG30, aVAP-33-related protein, functions in protein transport mediated by COPI vesicles. J Cell Biol. 1999; 146:301-11.
-
(1999)
J Cell Biol
, vol.146
, pp. 301-311
-
-
Soussan, L.1
Burakov, D.2
Daniels, M.P.3
Toister-Achituv, M.4
Porat, A.5
Yarden, Y.6
-
13
-
-
34848904785
-
Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates
-
Teuling E, Ahmed S, Haasdijk E, Demmers J, Steinmetz MO, Akhmanova A, et al. Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates. J Neurosci. 2007; 27:9801-15.
-
(2007)
J Neurosci
, vol.27
, pp. 9801-9815
-
-
Teuling, E.1
Ahmed, S.2
Haasdijk, E.3
Demmers, J.4
Steinmetz, M.O.5
Akhmanova, A.6
-
14
-
-
77951975098
-
Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord
-
Anagnostou G, Akbar M T, Paul P, Angelinetta C, Steiner TJ, de Belleroche J. Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord. Neurobiol Aging. 2010; 31:969-85.
-
(2010)
Neurobiol Aging
, vol.31
, pp. 969-985
-
-
Anagnostou, G.1
Akbar, M.T.2
Paul, P.3
Angelinetta, C.4
Steiner, T.J.5
De Belleroche, J.6
-
15
-
-
78650048929
-
Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis
-
Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, et al. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. J Biol Chem. 2010; 285:40266-81.
-
(2010)
J Biol Chem.
, vol.285
, pp. 40266-40281
-
-
Chen, H.J.1
Anagnostou, G.2
Chai, A.3
Withers, J.4
Morris, A.5
Adhikaree, J.6
-
16
-
-
84866766416
-
VAPB and C9orf72 mutations in one familial amyotrophic lateral sclerosis patient
-
van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, et al. VAPB and C9orf72 mutations in one familial amyotrophic lateral sclerosis patient. Neurobiol Aging. 2012; 33:2950e1-4.
-
(2012)
Neurobiol Aging
, vol.33
-
-
Van Blitterswijk, M.1
Van Es, M.A.2
Koppers, M.3
Van Rheenen, W.4
Medic, J.5
Schelhaas, H.J.6
-
17
-
-
40649086996
-
Helsinki and the declaration of helsinki
-
de Roy P G. H elsinki and the Declaration of Helsinki. W orld Med J. 2004; 50:9-11.
-
(2004)
World Med J
, vol.50
, pp. 9-11
-
-
De Roy, P.G.1
-
18
-
-
0028142392
-
El escorial world federation of neurology criteria for the diagnosis of amyotrophic lateral sclerosis
-
Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ' Clinical limits of amyotrophic lateral sclerosis ' workshop contributors
-
Brooks BR. E l Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ' Clinical limits of amyotrophic lateral sclerosis ' workshop contributors. J Neurol Sci. 1994; 124(Suppl):96-107.
-
(1994)
J Neurol Sci
, vol.124
, Issue.SUPPL.
, pp. 96-107
-
-
Brooks, B.R.1
-
19
-
-
79955777846
-
Proposed criteria for familial amyotrophic lateral sclerosis
-
Byrne S, Bede P, Elamin M, Kenna K, Lynch C, McLaughlin R, et al. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011; 12:157-9.
-
(2011)
Amyotroph Lateral Scler
, vol.12
, pp. 157-159
-
-
Byrne, S.1
Bede, P.2
Elamin, M.3
Kenna, K.4
Lynch, C.5
McLaughlin, R.6
-
20
-
-
77951640946
-
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. Nat Methods. 2010; 7:248-9.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
-
21
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. P redicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4:1073-81.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
22
-
-
34547100092
-
SNAP: Predict effect of non-synonymous polymorphisms on function
-
Bromberg Y, Rost B. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res. 2007; 35:3823-35.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
23
-
-
25144496606
-
PMUT: A web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics. 2005; 21:3176-8.
-
(2005)
Bioinformatics
, vol.21
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpi, J.L.2
Zamakola, L.3
Parraga, I.4
De La Cruz, X.5
Orozco, M.6
-
24
-
-
27544469800
-
Predicting protein stability changes from sequences using support vector machines
-
Capriotti E, Fariselli P, Calabrese R, Casadio R. P redicting protein stability changes from sequences using support vector machines. Bioinformatics. 2005; 21(Suppl 2):54-8.
-
(2005)
Bioinformatics
, vol.21
, Issue.SUPPL. 2
, pp. 54-58
-
-
Capriotti, E.1
Fariselli, P.2
Calabrese, R.3
Casadio, R.4
-
25
-
-
23144461249
-
I-Mutant2.0: Predicting stability changes upon mutation from the protein sequence or structure
-
Capriotti E, Fariselli P, Casadio R. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res. 2005; 33:306-10.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 306-310
-
-
Capriotti, E.1
Fariselli, P.2
Casadio, R.3
-
26
-
-
33751013750
-
Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information
-
Capriotti E, Calabrese R, Casadio R. P redicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics. 2006; 22:2729-34.
-
(2006)
Bioinformatics
, vol.22
, pp. 2729-2734
-
-
Capriotti, E.1
Calabrese, R.2
Casadio, R.3
-
27
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
Altschul S F, Madden TL, Shaffer AA, Zhang J, Zhang Z, Miller W, et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 1997; 25:3389-402.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 3389-3402
-
-
Altschul, S.F.1
Madden, T.L.2
Shaffer, A.A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
-
28
-
-
80054078476
-
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
-
Sievers F, Wilm A, Dineen D, Gibson TJ, Karplus K, Li W, et al. Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol Syst Biol. 2011; 7:539.
-
(2011)
Mol Syst Biol
, vol.7
, pp. 539
-
-
Sievers, F.1
Wilm, A.2
Dineen, D.3
Gibson, T.J.4
Karplus, K.5
Li, W.6
-
29
-
-
77954296666
-
A new bioinformatics analysis tools framework at EMBL-EBI
-
McWilliam H, Li W, Valentin F, Squizzato S, Paern J, et al. A new bioinformatics analysis tools framework at EMBL-EBI. Nucleic Acids Res. 2010; 38:695-9.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 695-699
-
-
McWilliam, H.1
Li, W.2
Valentin, F.3
Squizzato, S.4
Paern, J.5
-
30
-
-
84862221167
-
SMART 7: Recent updates to the protein domain annotation resource
-
Letunic I, Doerks T, Bork P. S MART 7: recent updates to the protein domain annotation resource. Nucleic Acids Res. 2012; 40:302-5.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 302-305
-
-
Letunic, I.1
Doerks, T.2
Bork, P.3
-
31
-
-
0032568655
-
SMART, asimple modular architecture research tool: Identifi cation of signalling domains
-
Schultz J, Milpetz F, Bork P, Ponting CP. S MART, asimple modular architecture research tool: identifi cation of signalling domains. Proc Natl Acad Sci USA. 1998; 95:5857-64.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 5857-5864
-
-
Schultz, J.1
Milpetz, F.2
Bork, P.3
Ponting, C.P.4
-
32
-
-
75549087533
-
PROSITE, aprotein domain database for functional characterization and annotation
-
Sigrist CJ, Cerutti L, de Castro E, Langendijk-Genevaux PS, Bulliard V, Bairoch A, et al. PROSITE, aprotein domain database for functional characterization and annotation. Nucleic Acids Res. 2010; 38:161-6.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 161-166
-
-
Sigrist, C.J.1
Cerutti, L.2
De Castro, E.3
Langendijk-Genevaux, P.S.4
Bulliard, V.5
Bairoch, A.6
-
33
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. M utation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000; 15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
34
-
-
84972545970
-
A survey of exact inference for contingency tables
-
Agresti A. A Survey of Exact Inference for Contingency Tables. Statist Sci. 1992; 7:131-53.
-
(1992)
Statist Sci
, vol.7
, pp. 131-153
-
-
Agresti, A.1
-
35
-
-
58549088349
-
ALS-linked P56S-VAPB an aggregated loss-of-function mutant of VAPB predisposes motor neurons to ER stress-related death by inducing aggregation of coexpressed wild-type VAPB
-
Suzuki H, Kanekura K, Levine T P, Kohno K, Olkkonen VM, Aiso S, et al. ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of coexpressed wild-type VAPB. J Neurochem. 2009; 108:973-85.
-
(2009)
J Neurochem
, vol.108
, pp. 973-985
-
-
Suzuki, H.1
Kanekura, K.2
Levine, T.P.3
Kohno, K.4
Olkkonen, V.M.5
Aiso, S.6
-
36
-
-
43449099127
-
The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors
-
Tsuda H, Han SM, Yang Y, Tong C, Lin YQ, Mohan K, et al. The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Cell. 2008; 133:963-77.
-
(2008)
Cell
, vol.133
, pp. 963-977
-
-
Tsuda, H.1
Han, S.M.2
Yang, Y.3
Tong, C.4
Lin, Y.Q.5
Mohan, K.6
-
37
-
-
33745322657
-
Sporadic ALS is not associated with VAPB gene mutations in southern Italy
-
Conforti F L, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, et al. Sporadic ALS is not associated with VAPB gene mutations in southern Italy. J Negat Results Biomed. 2006; 5:7.
-
(2006)
J Negat Results Biomed
, vol.5
, pp. 7
-
-
Conforti, F.L.1
Sprovieri, T.2
Mazzei, R.3
Ungaro, C.4
Tessitore, A.5
Tedeschi, G.6
-
38
-
-
84865071988
-
Evidence for oligogenic basis of amyotrophic lateral sclerosis
-
van Blitterswijk M, van Es M A, Hennekam E A, Dooijes D, van Rheenen W, Medic J, et al. Evidence for oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet. 2012; 21:3776-84.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3776-3784
-
-
Van Blitterswijk, M.1
Van Es, M.A.2
Hennekam, E.A.3
Dooijes, D.4
Van Rheenen, W.5
Medic, J.6
|