-
1
-
-
33750735406
-
Neurodegeneration with brain iron accumulation: from genes to pathogenesis
-
Hayflick S.J. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Semin. Pediatr. Neurol. 2006, 13:182-185.
-
(2006)
Semin. Pediatr. Neurol.
, vol.13
, pp. 182-185
-
-
Hayflick, S.J.1
-
2
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
-
Hayflick S.J., Westaway S.K., Levinson B., Zhou B., Johnson M.A., Ching K.H., Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. New Engl. J. Med. 2003, 348:33-40.
-
(2003)
New Engl. J. Med.
, vol.348
, pp. 33-40
-
-
Hayflick, S.J.1
Westaway, S.K.2
Levinson, B.3
Zhou, B.4
Johnson, M.A.5
Ching, K.H.6
Gitschier, J.7
-
3
-
-
62149099955
-
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
-
Gregory A., Polster B.J., Hayflick S.J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J. Med. Gen. 2009, 46:73-80.
-
(2009)
J. Med. Gen.
, vol.46
, pp. 73-80
-
-
Gregory, A.1
Polster, B.J.2
Hayflick, S.J.3
-
4
-
-
32044455822
-
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
-
Hartig M.B., Hortnagel K., Garavaglia B., Zorzi G., Kmiec T., Klopstock T., Rostasy K., Svetel M., Kostic V.S., Schuelke M., Botz E., Weindl A., Novakovic I., Nardocci N., Prokisch H., Meitinger T. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann. Neurol. 2006, 59:248-256.
-
(2006)
Ann. Neurol.
, vol.59
, pp. 248-256
-
-
Hartig, M.B.1
Hortnagel, K.2
Garavaglia, B.3
Zorzi, G.4
Kmiec, T.5
Klopstock, T.6
Rostasy, K.7
Svetel, M.8
Kostic, V.S.9
Schuelke, M.10
Botz, E.11
Weindl, A.12
Novakovic, I.13
Nardocci, N.14
Prokisch, H.15
Meitinger, T.16
-
5
-
-
84891835067
-
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation
-
Dusi S., Valletta L., Haack T.B., Tsuchiya Y., Venco P., Pasqualato S., Goffrini P., Tigano M., Demchenko N., Wieland T., Schwarzmayr T., Strom T.M., Invernizzi F., Garavaglia B., Gregory A., Sanford L., Hamada J., Bettencourt C., Houlden H., Chiapparini L., Zorzi G., Kurian M.A., Nardocci N., Prokisch H., Hayflick S., Gout I., Tiranti V. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am. J. Hum. Gen. 2014, 94:11-22.
-
(2014)
Am. J. Hum. Gen.
, vol.94
, pp. 11-22
-
-
Dusi, S.1
Valletta, L.2
Haack, T.B.3
Tsuchiya, Y.4
Venco, P.5
Pasqualato, S.6
Goffrini, P.7
Tigano, M.8
Demchenko, N.9
Wieland, T.10
Schwarzmayr, T.11
Strom, T.M.12
Invernizzi, F.13
Garavaglia, B.14
Gregory, A.15
Sanford, L.16
Hamada, J.17
Bettencourt, C.18
Houlden, H.19
Chiapparini, L.20
Zorzi, G.21
Kurian, M.A.22
Nardocci, N.23
Prokisch, H.24
Hayflick, S.25
Gout, I.26
Tiranti, V.27
more..
-
6
-
-
60849121924
-
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
-
Paisan-Ruiz C., Bhatia K.P., Li A., Hernandez D., Davis M., Wood N.W., Hardy J., Houlden H., Singleton A., Schneider S.A. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann. Neurol. 2009, 65:19-23.
-
(2009)
Ann. Neurol.
, vol.65
, pp. 19-23
-
-
Paisan-Ruiz, C.1
Bhatia, K.P.2
Li, A.3
Hernandez, D.4
Davis, M.5
Wood, N.W.6
Hardy, J.7
Houlden, H.8
Singleton, A.9
Schneider, S.A.10
-
7
-
-
84887240918
-
Mitochondrial membrane protein-associated neurodegeneration (MPAN)
-
Hartig M., Prokisch H., Meitinger T., Klopstock T. Mitochondrial membrane protein-associated neurodegeneration (MPAN). Int. Rev. Neurobiol. 2013, 110:73-84.
-
(2013)
Int. Rev. Neurobiol.
, vol.110
, pp. 73-84
-
-
Hartig, M.1
Prokisch, H.2
Meitinger, T.3
Klopstock, T.4
-
8
-
-
84887249922
-
BPAN: the only X-linked dominant NBIA disorder
-
Haack T.B., Hogarth P., Gregory A., Prokisch H., Hayflick S.J. BPAN: the only X-linked dominant NBIA disorder. Int. Rev. Neurobiol. 2013, 110:85-90.
-
(2013)
Int. Rev. Neurobiol.
, vol.110
, pp. 85-90
-
-
Haack, T.B.1
Hogarth, P.2
Gregory, A.3
Prokisch, H.4
Hayflick, S.J.5
-
9
-
-
84933177521
-
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism
-
Nishioka K., Oyama G., Yoshino H., Li Y., Matsushima T., Takeuchi C., Mochizuki Y., Mori-Yoshimura M., Murata M., Yamasita C., Nakamura N., Konishi Y., Ohi K., Ichikawa K., Terada T., Obi T., Funayama M., Saiki S., Hattori N. High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. Neurobiol. Aging 2015, 36:2004.e9-2004.e15.
-
(2015)
Neurobiol. Aging
, vol.36
, pp. 2004.e9-2004.e15
-
-
Nishioka, K.1
Oyama, G.2
Yoshino, H.3
Li, Y.4
Matsushima, T.5
Takeuchi, C.6
Mochizuki, Y.7
Mori-Yoshimura, M.8
Murata, M.9
Yamasita, C.10
Nakamura, N.11
Konishi, Y.12
Ohi, K.13
Ichikawa, K.14
Terada, T.15
Obi, T.16
Funayama, M.17
Saiki, S.18
Hattori, N.19
-
10
-
-
78249252333
-
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
-
Kruer M.C., Paisan-Ruiz C., Boddaert N., Yoon M.Y., Hama H., Gregory A., Malandrini A., Woltjer R.L., Munnich A., Gobin S., Polster B.J., Palmeri S., Edvardson S., Hardy J., Houlden H., Hayflick S.J. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann. Neurol. 2010, 68:611-618.
-
(2010)
Ann. Neurol.
, vol.68
, pp. 611-618
-
-
Kruer, M.C.1
Paisan-Ruiz, C.2
Boddaert, N.3
Yoon, M.Y.4
Hama, H.5
Gregory, A.6
Malandrini, A.7
Woltjer, R.L.8
Munnich, A.9
Gobin, S.10
Polster, B.J.11
Palmeri, S.12
Edvardson, S.13
Hardy, J.14
Houlden, H.15
Hayflick, S.J.16
-
11
-
-
77953512439
-
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
-
Paisan-Ruiz C., Guevara R., Federoff M., Hanagasi H., Sina F., Elahi E., Schneider S.A., Schwingenschuh P., Bajaj N., Emre M., Singleton A.B., Hardy J., Bhatia K.P., Brandner S., Lees A.J., Houlden H. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov. Disord. 2010, 25:1791-1800.
-
(2010)
Mov. Disord.
, vol.25
, pp. 1791-1800
-
-
Paisan-Ruiz, C.1
Guevara, R.2
Federoff, M.3
Hanagasi, H.4
Sina, F.5
Elahi, E.6
Schneider, S.A.7
Schwingenschuh, P.8
Bajaj, N.9
Emre, M.10
Singleton, A.B.11
Hardy, J.12
Bhatia, K.P.13
Brandner, S.14
Lees, A.J.15
Houlden, H.16
-
12
-
-
33845899114
-
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
-
Chinnery P.F., Crompton D.E., Birchall D., Jackson M.J., Coulthard A., Lombes A., Quinn N., Wills A., Fletcher N., Mottershead J.P., Cooper P., Kellett M., Bates D., Burn J. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007, 130:110-119.
-
(2007)
Brain
, vol.130
, pp. 110-119
-
-
Chinnery, P.F.1
Crompton, D.E.2
Birchall, D.3
Jackson, M.J.4
Coulthard, A.5
Lombes, A.6
Quinn, N.7
Wills, A.8
Fletcher, N.9
Mottershead, J.P.10
Cooper, P.11
Kellett, M.12
Bates, D.13
Burn, J.14
-
13
-
-
0043280850
-
Neuroferritinopathy in a French family with late onset dominant dystonia
-
Chinnery P.F., Curtis A.R., Fey C., Coulthard A., Crompton D., Curtis A., Lombes A., Burn J. Neuroferritinopathy in a French family with late onset dominant dystonia. J. Med. Gen. 2003, 40:e69.
-
(2003)
J. Med. Gen.
, vol.40
, pp. e69
-
-
Chinnery, P.F.1
Curtis, A.R.2
Fey, C.3
Coulthard, A.4
Crompton, D.5
Curtis, A.6
Lombes, A.7
Burn, J.8
-
14
-
-
84948715085
-
Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series
-
Vroegindeweij L.H., van der Beek E.H., Boon A.J., Hoogendoorn M., Kievit J.A., Wilson J.H., Langendonk J.G. Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series. Diabet. Med. 2015, 32:993-1000.
-
(2015)
Diabet. Med.
, vol.32
, pp. 993-1000
-
-
Vroegindeweij, L.H.1
van der Beek, E.H.2
Boon, A.J.3
Hoogendoorn, M.4
Kievit, J.A.5
Wilson, J.H.6
Langendonk, J.G.7
-
15
-
-
84937028955
-
Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis
-
Amaral L.L., Gaddikeri S., Chapman P.R., Roy R., Gaddikeri R.S., Marussi V.H., Bag A.K. Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J. Neuroimag. 2015, 25:539-551.
-
(2015)
J. Neuroimag.
, vol.25
, pp. 539-551
-
-
Amaral, L.L.1
Gaddikeri, S.2
Chapman, P.R.3
Roy, R.4
Gaddikeri, R.S.5
Marussi, V.H.6
Bag, A.K.7
-
16
-
-
84858713605
-
Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN)
-
Delgado R.F., Sanchez P.R., Speckter H., Then E.P., Jimenez R., Oviedo J., Dellani P.R., Foerster B., Stoeter P. Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN). J. Magn. Reson. imaging JMRI 2012, 35:788-794.
-
(2012)
J. Magn. Reson. imaging JMRI
, vol.35
, pp. 788-794
-
-
Delgado, R.F.1
Sanchez, P.R.2
Speckter, H.3
Then, E.P.4
Jimenez, R.5
Oviedo, J.6
Dellani, P.R.7
Foerster, B.8
Stoeter, P.9
-
17
-
-
42949158281
-
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
-
Kurian M.A., Morgan N.V., MacPherson L., Foster K., Peake D., Gupta R., Philip S.G., Hendriksz C., Morton J.E., Kingston H.M., Rosser E.M., Wassmer E., Gissen P., Maher E.R. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008, 70:1623-1629.
-
(2008)
Neurology
, vol.70
, pp. 1623-1629
-
-
Kurian, M.A.1
Morgan, N.V.2
MacPherson, L.3
Foster, K.4
Peake, D.5
Gupta, R.6
Philip, S.G.7
Hendriksz, C.8
Morton, J.E.9
Kingston, H.M.10
Rosser, E.M.11
Wassmer, E.12
Gissen, P.13
Maher, E.R.14
-
18
-
-
84856964851
-
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
-
Paisan-Ruiz C., Li A., Schneider S.A., Holton J.L., Johnson R., Kidd D., Chataway J., Bhatia K.P., Lees A.J., Hardy J., Revesz T., Houlden H. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol. Aging 2012, 33:814-823.
-
(2012)
Neurobiol. Aging
, vol.33
, pp. 814-823
-
-
Paisan-Ruiz, C.1
Li, A.2
Schneider, S.A.3
Holton, J.L.4
Johnson, R.5
Kidd, D.6
Chataway, J.7
Bhatia, K.P.8
Lees, A.J.9
Hardy, J.10
Revesz, T.11
Houlden, H.12
-
19
-
-
60849121924
-
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
-
Paisan-Ruiz C., Bhatia K.P., Li A., Hernandez D., Davis M., Wood N.W., Hardy J., Houlden H., Singleton A., Schneider S.A. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann. Neurol. 2009, 65:19-23.
-
(2009)
Ann. Neurol.
, vol.65
, pp. 19-23
-
-
Paisan-Ruiz, C.1
Bhatia, K.P.2
Li, A.3
Hernandez, D.4
Davis, M.5
Wood, N.W.6
Hardy, J.7
Houlden, H.8
Singleton, A.9
Schneider, S.A.10
-
20
-
-
84873649203
-
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
-
Hogarth P., Gregory A., Kruer M.C., Sanford L., Wagoner W., Natowicz M.R., Egel R.T., Subramony S.H., Goldman J.G., Berry-Kravis E., Foulds N.C., Hammans S.R., Desguerre I., Rodriguez D., Wilson C., Diedrich A., Green S., Tran H., Reese L., Woltjer R.L., Hayflick S.J. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology 2013, 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
Natowicz, M.R.6
Egel, R.T.7
Subramony, S.H.8
Goldman, J.G.9
Berry-Kravis, E.10
Foulds, N.C.11
Hammans, S.R.12
Desguerre, I.13
Rodriguez, D.14
Wilson, C.15
Diedrich, A.16
Green, S.17
Tran, H.18
Reese, L.19
Woltjer, R.L.20
Hayflick, S.J.21
more..
-
21
-
-
84878841473
-
Beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
-
Hayflick S.J., Kruer M.C., Gregory A., Haack T.B., Kurian M.A., Houlden H.H., Anderson J., Boddaert N., Sanford L., Harik S.I., Dandu V.H., Nardocci N., Zorzi G., Dunaway T., Tarnopolsky M., Skinner S., Holden K.R., Frucht S., Hanspal E., Schrander-Stumpel C., Mignot C., Heron D., Saunders D.E., Kaminska M., Lin J.P., Lascelles K., Cuno S.M., Meyer E., Garavaglia B., Bhatia K., de Silva R., Crisp S., Lunt P., Carey M., Hardy J., Meitinger T., Prokisch H., Hogarth P. beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013, 136:1708-1717.
-
(2013)
Brain
, vol.136
, pp. 1708-1717
-
-
Hayflick, S.J.1
Kruer, M.C.2
Gregory, A.3
Haack, T.B.4
Kurian, M.A.5
Houlden, H.H.6
Anderson, J.7
Boddaert, N.8
Sanford, L.9
Harik, S.I.10
Dandu, V.H.11
Nardocci, N.12
Zorzi, G.13
Dunaway, T.14
Tarnopolsky, M.15
Skinner, S.16
Holden, K.R.17
Frucht, S.18
Hanspal, E.19
Schrander-Stumpel, C.20
Mignot, C.21
Heron, D.22
Saunders, D.E.23
Kaminska, M.24
Lin, J.P.25
Lascelles, K.26
Cuno, S.M.27
Meyer, E.28
Garavaglia, B.29
Bhatia, K.30
de Silva, R.31
Crisp, S.32
Lunt, P.33
Carey, M.34
Hardy, J.35
Meitinger, T.36
Prokisch, H.37
Hogarth, P.38
more..
-
22
-
-
84865601614
-
MRI findings in neuroferritinopathy
-
Ohta E., Takiyama Y. MRI findings in neuroferritinopathy. Neurol. Res. Int. 2012, 2012:197438.
-
(2012)
Neurol. Res. Int.
, vol.2012
, pp. 197438
-
-
Ohta, E.1
Takiyama, Y.2
-
23
-
-
84929094420
-
Cortical pencil lining in neuroferritinopathy: a diagnostic clue
-
Batla A., Adams M.E., Erro R., Ganos C., Balint B., Mencacci N.E., Bhatia K.P. Cortical pencil lining in neuroferritinopathy: a diagnostic clue. Neurology 2015, 84:1816-1818.
-
(2015)
Neurology
, vol.84
, pp. 1816-1818
-
-
Batla, A.1
Adams, M.E.2
Erro, R.3
Ganos, C.4
Balint, B.5
Mencacci, N.E.6
Bhatia, K.P.7
-
24
-
-
42949158787
-
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
-
McNeill A., Birchall D., Hayflick S.J., Gregory A., Schenk J.F., Zimmerman E.A., Shang H., Miyajima H., Chinnery P.F. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008, 70:1614-1619.
-
(2008)
Neurology
, vol.70
, pp. 1614-1619
-
-
McNeill, A.1
Birchall, D.2
Hayflick, S.J.3
Gregory, A.4
Schenk, J.F.5
Zimmerman, E.A.6
Shang, H.7
Miyajima, H.8
Chinnery, P.F.9
-
25
-
-
84874928336
-
Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA)
-
Schneider S.A., Dusek P., Hardy J., Westenberger A., Jankovic J., Bhatia K.P. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA). Curr. Neuropharm. 2013, 11:59-79.
-
(2013)
Curr. Neuropharm.
, vol.11
, pp. 59-79
-
-
Schneider, S.A.1
Dusek, P.2
Hardy, J.3
Westenberger, A.4
Jankovic, J.5
Bhatia, K.P.6
-
26
-
-
84866175626
-
An international registry for neurodegeneration with brain iron accumulation
-
Kalman B., Lautenschlaeger R., Kohlmayer F., Buchner B., Kmiec T., Klopstock T., Kuhn K.A. An international registry for neurodegeneration with brain iron accumulation. Orphanet J. Rare Dis. 2012, 7:66.
-
(2012)
Orphanet J. Rare Dis.
, vol.7
, pp. 66
-
-
Kalman, B.1
Lautenschlaeger, R.2
Kohlmayer, F.3
Buchner, B.4
Kmiec, T.5
Klopstock, T.6
Kuhn, K.A.7
-
27
-
-
0032843885
-
A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh frozen plasma
-
Yonekawa M., Okabe T., Asamoto Y., Ohta M. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh frozen plasma. Eur. Neurol. 1999, 42:157-162.
-
(1999)
Eur. Neurol.
, vol.42
, pp. 157-162
-
-
Yonekawa, M.1
Okabe, T.2
Asamoto, Y.3
Ohta, M.4
-
28
-
-
42949158787
-
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
-
McNeill A., Birchall D., Hayflick S.J., Gregory A., Schenk J.F., Zimmermann E.A., Shang H., Miyajima H., Chinnery P.F. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 2008, 70:1614-1619.
-
(2008)
Neurology
, vol.70
, pp. 1614-1619
-
-
McNeill, A.1
Birchall, D.2
Hayflick, S.J.3
Gregory, A.4
Schenk, J.F.5
Zimmermann, E.A.6
Shang, H.7
Miyajima, H.8
Chinnery, P.F.9
-
29
-
-
34248592679
-
Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate
-
Kuhn J., Bewermeyer H., Miyajima H., Takahashi Y., Kuhn K.F., Hoogenraad T.U. Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate. Brain Dev. 2007, 29:450-453.
-
(2007)
Brain Dev.
, vol.29
, pp. 450-453
-
-
Kuhn, J.1
Bewermeyer, H.2
Miyajima, H.3
Takahashi, Y.4
Kuhn, K.F.5
Hoogenraad, T.U.6
|