-
1
-
-
80053916609
-
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
-
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, et al. (2011) Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 89: 543-550.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 543-550
-
-
Hartig, M.B.1
Iuso, A.2
Haack, T.3
Kmiec, T.4
Jurkiewicz, E.5
-
2
-
-
84862311702
-
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation
-
Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, et al. (2012) C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation. Semin Pediatr Neurol 19: 75-81.
-
(2012)
Semin Pediatr Neurol
, vol.19
, pp. 75-81
-
-
Panteghini, C.1
Zorzi, G.2
Venco, P.3
Dusi, S.4
Reale, C.5
-
3
-
-
84873649203
-
New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN
-
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, et al. (2013) New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 80: 268-275.
-
(2013)
Neurology
, vol.80
, pp. 268-275
-
-
Hogarth, P.1
Gregory, A.2
Kruer, M.C.3
Sanford, L.4
Wagoner, W.5
-
4
-
-
84868206031
-
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
-
Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, et al. (2012) C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. J Neurol 259: 2434-2439.
-
(2012)
J Neurol
, vol.259
, pp. 2434-2439
-
-
Deschauer, M.1
Gaul, C.2
Behrmann, C.3
Prokisch, H.4
Zierz, S.5
-
5
-
-
84883789623
-
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration
-
Dogu O, Krebs CE, Kaleagasi H, Demirtas Z, Oksuz N, et al. (2012) Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. Clin Genet 84: 350-355.
-
(2012)
Clin Genet
, vol.84
, pp. 350-355
-
-
Dogu, O.1
Krebs, C.E.2
Kaleagasi, H.3
Demirtas, Z.4
Oksuz, N.5
-
6
-
-
84874202364
-
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation
-
Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, et al. (2013) PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov Disord 28: 228-232.
-
(2013)
Mov Disord
, vol.28
, pp. 228-232
-
-
Dezfouli, M.A.1
Alavi, A.2
Rohani, M.3
Rezvani, M.4
Nekuie, T.5
-
7
-
-
84884715844
-
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation
-
Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, et al. (2013) Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. Mov Disord 28: 1462-1463.
-
(2013)
Mov Disord
, vol.28
, pp. 1462-1463
-
-
Goldman, J.G.1
Eichenseer, S.R.2
Berry-Kravis, E.3
Zimnowodzki, S.4
Gregory, A.5
-
8
-
-
84893001853
-
A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy
-
Schottmann G, Stenzel W, Lutzkendorf S, Schuelke M, Knierim E (2013) A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. Clin Genet.
-
(2013)
Clin Genet
-
-
Schottmann, G.1
Stenzel, W.2
Lutzkendorf, S.3
Schuelke, M.4
Knierim, E.5
-
9
-
-
84874206340
-
Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation
-
Schulte EC, Claussen MC, Jochim A, Haack T, Hartig M, et al. (2013) Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. Mov Disord 28: 224-227.
-
(2013)
Mov Disord
, vol.28
, pp. 224-227
-
-
Schulte, E.C.1
Claussen, M.C.2
Jochim, A.3
Haack, T.4
Hartig, M.5
-
10
-
-
45749083772
-
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system
-
DOI 10.1093/hmg/ddn105
-
Bosveld F, Rana A, van der Wouden PE, Lemstra W, Ritsema M, et al. (2008) De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system. Hum Mol Genet 17: 2058-2069. (Pubitemid 351865854)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.13
, pp. 2058-2069
-
-
Bosveld, F.1
Rana, A.2
Van Der, W.P.E.3
Lemstra, W.4
Ritsema, M.5
Kampinga, H.H.6
Sibon, O.C.M.7
-
11
-
-
70350774174
-
Pantothenate kinase-associated neurodegeneration: Insights from a Drosophila model
-
Wu Z, Li C, Lv S, Zhou B (2009) Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model. Hum Mol Genet 18: 3659-3672.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3659-3672
-
-
Wu, Z.1
Li, C.2
Lv, S.3
Zhou, B.4
-
12
-
-
77951055908
-
Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration
-
Rana A, Seinen E, Siudeja K, Muntendam R, Srinivasan B, et al. (2010) Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci U S A 107: 6988-6993.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 6988-6993
-
-
Rana, A.1
Seinen, E.2
Siudeja, K.3
Muntendam, R.4
Srinivasan, B.5
-
13
-
-
34547584314
-
Advantages of combined transmembrane topology and signal peptide prediction - The Phobius web server
-
Kall L, Krogh A, Sonnhammer EL (2007) Advantages of combined transmembrane topology and signal peptide prediction-the Phobius web server. Nucleic Acids Res 35: W429-432.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Kall, L.1
Krogh, A.2
Sonnhammer, E.L.3
-
14
-
-
34447530305
-
A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila
-
DOI 10.1038/nature05954, PII NATURE05954
-
Dietzl G, Chen D, Schnorrer F, Su KC, Barinova Y, et al. (2007) A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila. Nature 448: 151-156. (Pubitemid 47067374)
-
(2007)
Nature
, vol.448
, Issue.7150
, pp. 151-156
-
-
Dietzl, G.1
Chen, D.2
Schnorrer, F.3
Su, K.-C.4
Barinova, Y.5
Fellner, M.6
Gasser, B.7
Kinsey, K.8
Oppel, S.9
Scheiblauer, S.10
Couto, A.11
Marra, V.12
Keleman, K.13
Dickson, B.J.14
-
15
-
-
84895939859
-
Neurodegeneration with Brain Iron Accumulation Disorders Overview
-
Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. Seattle (WA): University of Washington, Seattle
-
Gregory A, Hayflick S (2013) Neurodegeneration with Brain Iron Accumulation Disorders Overview. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews Seattle (WA): University of Washington, Seattle; 1993-2013.
-
(2013)
GeneReviews
, pp. 1993-2013
-
-
Gregory, A.1
Hayflick, S.2
-
16
-
-
0035958642
-
Tauopathy in Drosophila: Neurodegeneration without neurofibrillary tangles
-
Wittmann CW, Wszolek MF, Shulman JM, Salvaterra PM, Lewis J, et al. (2001) Tauopathy in Drosophila: neurodegeneration without neurofibrillary tangles. Science 293: 711-714. (Pubitemid 32728676)
-
(2001)
Science
, vol.293
, Issue.5530
, pp. 711-714
-
-
Wittmann, C.W.1
Wszolek, M.F.2
Shulman, J.M.3
Salvaterra, P.M.4
Lewis, J.5
Hutton, M.6
Feany, M.B.7
-
17
-
-
15244351250
-
Loss of Swiss cheese/neuropathy target esterase activity causes disruption of phosphatidylcholine homeostasis and neuronal and glial death in adult Drosophila
-
DOI 10.1523/JNEUROSCI.5097-04.2005
-
Muhlig-Versen M, da Cruz AB, Tschape JA, Moser M, Buttner R, et al. (2005) Loss of Swiss cheese/neuropathy target esterase activity causes disruption of phosphatidylcholine homeostasis and neuronal and glial death in adult Drosophila. J Neurosci 25: 2865-2873. (Pubitemid 40389244)
-
(2005)
Journal of Neuroscience
, vol.25
, Issue.11
, pp. 2865-2873
-
-
Muhlig-Versen, M.1
Da, C.A.B.2
Tschape, J.-A.3
Moser, M.4
Buttner, R.5
Athenstaedt, K.6
Glynn, P.7
Kreizschmar, D.8
-
18
-
-
0030864464
-
The Swiss cheese mutant causes glial hyperwrapping and brain degeneration in Drosophila
-
Kretzschmar D, Hasan G, Sharma S, Heisenberg M, Benzer S (1997) The swiss cheese mutant causes glial hyperwrapping and brain degeneration in Drosophila. J Neurosci 17: 7425-7432. (Pubitemid 27413273)
-
(1997)
Journal of Neuroscience
, vol.17
, Issue.19
, pp. 7425-7432
-
-
Kretzschmar, D.1
Hasan, G.2
Sharma, S.3
Heisenberg, M.4
Benzer, S.5
-
19
-
-
84870159570
-
Probing mechanisms that underlie human neurodegenerative diseases in Drosophila
-
Jaiswal M, Sandoval H, Zhang K, Bayat V, Bellen HJ (2012) Probing mechanisms that underlie human neurodegenerative diseases in Drosophila. Annu Rev Genet 46: 371-396.
-
(2012)
Annu Rev Genet
, vol.46
, pp. 371-396
-
-
Jaiswal, M.1
Sandoval, H.2
Zhang, K.3
Bayat, V.4
Bellen, H.J.5
-
20
-
-
0036468432
-
Chaperone suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson's disease
-
DOI 10.1126/science.1067389
-
Auluck PK, Chan HY, Trojanowski JQ, Lee VM, Bonini NM (2002) Chaperone suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson's disease. Science 295: 865-868. (Pubitemid 34118369)
-
(2002)
Science
, vol.295
, Issue.5556
, pp. 865-868
-
-
Auluck, P.K.1
Chan, H.Y.E.2
Trojanowski, J.Q.3
Lee, V.M.-Y.4
Bonini, N.M.5
-
21
-
-
84855535702
-
Modelling tauopathies in Drosophila: Insights from the fruit fly
-
Cowan CM, Sealey MA, Quraishe S, Targett MT, Marcellus K, et al. (2011) Modelling tauopathies in Drosophila: insights from the fruit fly. Int J Alzheimers Dis 2011: 598157.
-
(2011)
Int J Alzheimers Dis
, vol.2011
, pp. 598157
-
-
Cowan, C.M.1
Sealey, M.A.2
Quraishe, S.3
Targett, M.T.4
Marcellus, K.5
-
22
-
-
84878272993
-
The Drosophila homologue of the amyloid precursor protein is a conserved modulator of Wnt PCP signaling
-
Soldano A, Okray Z, Janovska P, Tmejova K, Reynaud E, et al. (2013) The Drosophila homologue of the amyloid precursor protein is a conserved modulator of Wnt PCP signaling. PLoS Biol 11: e1001562.
-
(2013)
PLoS Biol
, vol.11
-
-
Soldano, A.1
Okray, Z.2
Janovska, P.3
Tmejova, K.4
Reynaud, E.5
-
23
-
-
0032168160
-
Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons
-
DOI 10.1016/S0896-6273(00)80573-5
-
Jackson GR, Salecker I, Dong X, Yao X, Arnheim N, et al. (1998) Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 21: 633-642. (Pubitemid 28475514)
-
(1998)
Neuron
, vol.21
, Issue.3
, pp. 633-642
-
-
Jackson, G.R.1
Salecker, I.2
Dong, X.3
Yao, X.4
Arnheim, N.5
Faber, P.W.6
MacDonald, M.E.7
Zipursky, S.L.8
-
24
-
-
0000064419
-
Behavioral mutants of Drosophila isolated by counter-current distribution
-
Benzer S (1967) Behavioral mutants of Drosophila isolated by counter-current distribution. Proc Natl Acad Sci U S A 58: 1112-1119.
-
(1967)
Proc Natl Acad Sci U S A
, vol.58
, pp. 1112-1119
-
-
Benzer, S.1
-
25
-
-
0036859943
-
The Drosophila slamdance gene: A mutation in an aminopeptidase can cause seizure, paralysis and neuronal failure
-
Zhang H, Tan J, Reynolds E, Kuebler D, Faulhaber S, et al. (2002) The Drosophila slamdance gene: a mutation in an aminopeptidase can cause seizure, paralysis and neuronal failure. Genetics 162: 1283-1299. (Pubitemid 35417519)
-
(2002)
Genetics
, vol.162
, Issue.3
, pp. 1283-1299
-
-
Zhang, H.1
Tan, J.2
Reynolds, E.3
Kuebler, D.4
Faulhaber, S.5
Tanouye, M.6
|