-
1
-
-
84855962257
-
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations
-
Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Movement Disord 2012;27:42-53.
-
(2012)
Movement Disord
, vol.27
, pp. 42-53
-
-
Schneider, S.A.1
Hardy, J.2
Bhatia, K.P.3
-
2
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
-
Hayflick SJ, Westaway SK, Levinson B, et al. 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
-
4
-
-
84862326273
-
Neurodegeneration with brain iron accumulation: a diagnostic algorithm
-
Kruer MC, Boddaert N. Neurodegeneration with brain iron accumulation: a diagnostic algorithm. Semin Pediatr Neurol 2012;19:67-74.
-
(2012)
Semin Pediatr Neurol
, vol.19
, pp. 67-74
-
-
Kruer, M.C.1
Boddaert, N.2
-
5
-
-
84863337915
-
Neuroimaging features of neurodegeneration with brain iron accumulation
-
Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012;33:407-414.
-
(2012)
AJNR Am J Neuroradiol
, vol.33
, pp. 407-414
-
-
Kruer, M.C.1
Boddaert, N.2
Schneider, S.A.3
-
6
-
-
16144365391
-
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
-
Taylor TD, Litt M, Kramer P, et al. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet 1996;14:479-481.
-
(1996)
Nat Genet
, vol.14
, pp. 479-481
-
-
Taylor, T.D.1
Litt, M.2
Kramer, P.3
-
7
-
-
0034935036
-
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
-
Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001;28:345-349.
-
(2001)
Nat Genet
, vol.28
, pp. 345-349
-
-
Zhou, B.1
Westaway, S.K.2
Levinson, B.3
-
8
-
-
84862332594
-
Syndromes of neurodegeneration with brain iron accumulation
-
Schneider SA, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation. Semin Pediatr Neurol 2012;19:57-66.
-
(2012)
Semin Pediatr Neurol
, vol.19
, pp. 57-66
-
-
Schneider, S.A.1
Bhatia, K.P.2
-
9
-
-
30944445397
-
Neurodegeneration with brain iron accumulation
-
Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathol 2005;43:286-296.
-
(2005)
Folia Neuropathol
, vol.43
, pp. 286-296
-
-
Gregory, A.1
Hayflick, S.J.2
-
10
-
-
14944370238
-
Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration
-
Marelli C, Piacentini S, Garavaglia B, et al. Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration. Movement Disord 2005;20:208-212.
-
(2005)
Movement Disord
, vol.20
, pp. 208-212
-
-
Marelli, C.1
Piacentini, S.2
Garavaglia, B.3
-
11
-
-
23744440327
-
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)
-
Egan RA, Weleber RG, Hogarth P, et al. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol 2005;140:267-274.
-
(2005)
Am J Ophthalmol
, vol.140
, pp. 267-274
-
-
Egan, R.A.1
Weleber, R.G.2
Hogarth, P.3
-
12
-
-
62149099955
-
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
-
Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009;46:73-80.
-
(2009)
J Med Genet
, vol.46
, pp. 73-80
-
-
Gregory, A.1
Polster, B.J.2
Hayflick, S.J.3
-
13
-
-
67650970698
-
Twenty classic signs in neuroradiology: a pictorial essay
-
Chavhan GB, Shroff MM. Twenty classic signs in neuroradiology: a pictorial essay. Ind J Radiol Imag 2009;19:135-145.
-
(2009)
Ind J Radiol Imag
, vol.19
, pp. 135-145
-
-
Chavhan, G.B.1
Shroff, M.M.2
-
14
-
-
0023780837
-
Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations
-
Sethi KD, Adams RJ, Loring DW, et al. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol 1988;24:692-694.
-
(1988)
Ann Neurol
, vol.24
, pp. 692-694
-
-
Sethi, K.D.1
Adams, R.J.2
Loring, D.W.3
-
15
-
-
17444391231
-
Hallervorden-Spatz disease: MR and pathological findings of a rare case
-
Sharma MC, Aggarwal N, Bihari M, et al. Hallervorden-Spatz disease: MR and pathological findings of a rare case. Neurol India 2005;53:102-104.
-
(2005)
Neurol India
, vol.53
, pp. 102-104
-
-
Sharma, M.C.1
Aggarwal, N.2
Bihari, M.3
-
16
-
-
0024546018
-
Magnetic resonance imaging in pathologically proven Hallervorden-Spatz disease
-
Schaffert DA, Johnsen SD, Johnson PC, et al. Magnetic resonance imaging in pathologically proven Hallervorden-Spatz disease. Neurology 1989;39:440-442.
-
(1989)
Neurology
, vol.39
, pp. 440-442
-
-
Schaffert, D.A.1
Johnsen, S.D.2
Johnson, P.C.3
-
17
-
-
79953665042
-
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
-
Kruer MC, Hiken M, Gregory A, et al. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain 2011;134:947-958.
-
(2011)
Brain
, vol.134
, pp. 947-958
-
-
Kruer, M.C.1
Hiken, M.2
Gregory, A.3
-
18
-
-
0033709213
-
The eye-of-the-tiger sign
-
Guillerman RP. The eye-of-the-tiger sign. Radiology 2000;217:895-896.
-
(2000)
Radiology
, vol.217
, pp. 895-896
-
-
Guillerman, R.P.1
-
19
-
-
66149121785
-
Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?
-
Schneider SA, Hardy J, Bhatia KP. Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? J Neurol Neurosurg Psychiatry 2009;80:589-590.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 589-590
-
-
Schneider, S.A.1
Hardy, J.2
Bhatia, K.P.3
-
20
-
-
0034850470
-
Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome
-
Hayflick SJ, Penzien JM, Michl W, et al. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol 2001;25:166-169.
-
(2001)
Pediatr Neurol
, vol.25
, pp. 166-169
-
-
Hayflick, S.J.1
Penzien, J.M.2
Michl, W.3
-
21
-
-
32044455822
-
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
-
Hartig MB, Hortnagel K, Garavaglia B, et al. 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
-
22
-
-
33746510946
-
Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings
-
Zolkipli Z, Dahmoush H, Saunders DE, et al. Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings. Pediatr Radiol 2006;36:884-886.
-
(2006)
Pediatr Radiol
, vol.36
, pp. 884-886
-
-
Zolkipli, Z.1
Dahmoush, H.2
Saunders, D.E.3
-
23
-
-
23644462058
-
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome
-
Baumeister FA, Auer DP, Hortnagel K, et al. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics 2005;36:221-222.
-
(2005)
Neuropediatrics
, vol.36
, pp. 221-222
-
-
Baumeister, F.A.1
Auer, D.P.2
Hortnagel, K.3
-
24
-
-
84856044221
-
Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging
-
Schipper HM. Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging. Biochim Biophys Acta 2012;1822:350-360.
-
(2012)
Biochim Biophys Acta
, vol.1822
, pp. 350-360
-
-
Schipper, H.M.1
-
25
-
-
84878292723
-
Eye-of-the-tiger sign is not pathognomonic of pantothenate kinase-associated neurodegeneration in adult cases
-
Chang CL, Lin CM. Eye-of-the-tiger sign is not pathognomonic of pantothenate kinase-associated neurodegeneration in adult cases. Brain Behav 2011;1:55-56.
-
(2011)
Brain Behav
, vol.1
, pp. 55-56
-
-
Chang, C.L.1
Lin, C.M.2
-
26
-
-
42949158787
-
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
-
McNeill A, Birchall D, Hayflick SJ, et al. 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
-
27
-
-
0344327063
-
The eye of the tiger sign in cortical-basal ganglionic degeneration
-
Molinuevo JL, Munoz E, Valldeoriola F, et al. The eye of the tiger sign in cortical-basal ganglionic degeneration. Movement Disord 1999;14:169-171.
-
(1999)
Movement Disord
, vol.14
, pp. 169-171
-
-
Molinuevo, J.L.1
Munoz, E.2
Valldeoriola, F.3
-
28
-
-
35448974165
-
Eye of the tiger sign in multiple system atrophy
-
Strecker K, Hesse S, Wegner F, et al. Eye of the tiger sign in multiple system atrophy. Eur J Neurol 2007;14:e1-e2.
-
(2007)
Eur J Neurol
, vol.14
, pp. e1-e2
-
-
Strecker, K.1
Hesse, S.2
Wegner, F.3
-
30
-
-
32944456913
-
The "eye-of-the-tiger" sign is not pathognomonic of the PANK2 mutation
-
Kumar N, Boes CJ, Babovic-Vuksanovic D, et al. The "eye-of-the-tiger" sign is not pathognomonic of the PANK2 mutation. Arch Neurol 2006;63:292-293.
-
(2006)
Arch Neurol
, vol.63
, pp. 292-293
-
-
Kumar, N.1
Boes, C.J.2
Babovic-Vuksanovic, D.3
-
31
-
-
11444268286
-
[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene
-
Cossu G, Cella C, Melis M, et al. [123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene. Neurology 2005;64:167-168.
-
(2005)
Neurology
, vol.64
, pp. 167-168
-
-
Cossu, G.1
Cella, C.2
Melis, M.3
-
32
-
-
84857366926
-
Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA)
-
Liman J, Wellmer A, Rostasy K, et al. Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA). Eur J Paediatr Neurol 2012;16:175-178.
-
(2012)
Eur J Paediatr Neurol
, vol.16
, pp. 175-178
-
-
Liman, J.1
Wellmer, A.2
Rostasy, K.3
-
33
-
-
84862518904
-
Transcranial sonography in pantothenate kinase-associated neurodegeneration
-
Kostic VS, Svetel M, Mijajlovic M, et al. Transcranial sonography in pantothenate kinase-associated neurodegeneration. J Neurol 2012;259:959-964.
-
(2012)
J Neurol
, vol.259
, pp. 959-964
-
-
Kostic, V.S.1
Svetel, M.2
Mijajlovic, M.3
-
34
-
-
84856964851
-
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
-
Paisan-Ruiz C, Li A, Schneider SA, et al. 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
-
35
-
-
84895939859
-
Neurodegeneration with brain iron accumulation disorders overview
-
In: Pagon RA, Adam MP, Bird TD, eds,Seattle, WA: University of Washington
-
Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: Pagon RA, Adam MP, Bird TD, et al., eds. Gene Reviews. Seattle, WA: University of Washington. 2013:1993-2014.
-
(2013)
Gene Reviews
, pp. 1993-2014
-
-
Gregory, A.1
Hayflick, S.2
-
36
-
-
84874928336
-
Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA)
-
Schneider SA, Dusek P, Hardy J, et al. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA). Curr Neuropharmacol 2013;11:59-79.
-
(2013)
Curr Neuropharmacol
, vol.11
, pp. 59-79
-
-
Schneider, S.A.1
Dusek, P.2
Hardy, J.3
-
37
-
-
58149229973
-
Neurodegeneration associated with genetic defects in phospholipase A(2)
-
Gregory A, Westaway SK, Holm IE, et al. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 2008;71:1402-1409.
-
(2008)
Neurology
, vol.71
, pp. 1402-1409
-
-
Gregory, A.1
Westaway, S.K.2
Holm, I.E.3
-
38
-
-
33745553895
-
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
-
Morgan NV, Westaway SK, Morton JE, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006;38:752-754.
-
(2006)
Nat Genet
, vol.38
, pp. 752-754
-
-
Morgan, N.V.1
Westaway, S.K.2
Morton, J.E.3
-
39
-
-
42949158281
-
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
-
Kurian MA, Morgan NV, MacPherson L, et al. 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
-
40
-
-
78249252333
-
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
-
Kruer MC, Paisan-Ruiz C, Boddaert N, et al. 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
-
41
-
-
84875757691
-
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
-
9e1
-
Saitsu H, Nishimura T, Muramatsu K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013;45:445-449, 9e1.
-
(2013)
Nat Genet
, vol.45
, pp. 445-449
-
-
Saitsu, H.1
Nishimura, T.2
Muramatsu, K.3
-
42
-
-
84878841473
-
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
-
Hayflick SJ, Kruer MC, Gregory A, et al. 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
-
43
-
-
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, et al. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 2011;89:543-550.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 543-550
-
-
Hartig, M.B.1
Iuso, A.2
Haack, T.3
-
44
-
-
84873649203
-
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
-
Hogarth P, Gregory A, Kruer MC, et al. 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
-
45
-
-
84887240918
-
Mitochondrial membrane protein-associated neurodegeneration (MPAN)
-
Hartig M, Prokisch H, Meitinger T, et al. 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
-
46
-
-
0023240051
-
Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration
-
Miyajima H, Nishimura Y, Mizoguchi K, et al. Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 1987;37:761-767.
-
(1987)
Neurology
, vol.37
, pp. 761-767
-
-
Miyajima, H.1
Nishimura, Y.2
Mizoguchi, K.3
-
47
-
-
0346847502
-
Aceruloplasminemia, an iron metabolic disorder
-
Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology 2003;23:345-350.
-
(2003)
Neuropathology
, vol.23
, pp. 345-350
-
-
Miyajima, H.1
-
48
-
-
48049107099
-
The neurological presentation of ceruloplasmin gene mutations
-
McNeill A, Pandolfo M, Kuhn J, et al. The neurological presentation of ceruloplasmin gene mutations. Eur Neurol 2008;60:200-205.
-
(2008)
Eur Neurol
, vol.60
, pp. 200-205
-
-
McNeill, A.1
Pandolfo, M.2
Kuhn, J.3
-
49
-
-
77952968307
-
Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice
-
Merle U, Tuma S, Herrmann T, et al. Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice. J Gastroen Hepatol 2010;25:1144-1150.
-
(2010)
J Gastroen Hepatol
, vol.25
, pp. 1144-1150
-
-
Merle, U.1
Tuma, S.2
Herrmann, T.3
-
50
-
-
0034656236
-
Increased lipid peroxidation in the brains of aceruloplasminemia patients
-
Yoshida K, Kaneko K, Miyajima H, et al. Increased lipid peroxidation in the brains of aceruloplasminemia patients. J Neurol Sci 2000;175:91-95.
-
(2000)
J Neurol Sci
, vol.175
, pp. 91-95
-
-
Yoshida, K.1
Kaneko, K.2
Miyajima, H.3
-
51
-
-
33845899114
-
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
-
Chinnery PF, Crompton DE, Birchall D, et al. 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
-
52
-
-
0034941118
-
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
-
Curtis AR, Fey C, Morris CM, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001;28:350-354.
-
(2001)
Nat Genet
, vol.28
, pp. 350-354
-
-
Curtis, A.R.1
Fey, C.2
Morris, C.M.3
-
54
-
-
84876935175
-
Case 193: Neuroferritinopathy-a brain iron accumulation and neurodegenerative disorder
-
Fatima Z, Ishigame K, Araki T. Case 193: Neuroferritinopathy-a brain iron accumulation and neurodegenerative disorder. Radiology 2013;267:650-655.
-
(2013)
Radiology
, vol.267
, pp. 650-655
-
-
Fatima, Z.1
Ishigame, K.2
Araki, T.3
-
55
-
-
0028298816
-
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
-
Najim al-Din AS, Wriekat A, Mubaidin A, et al. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994;89:347-352.
-
(1994)
Acta Neurol Scand
, vol.89
, pp. 347-352
-
-
Najim al-Din, A.S.1
Wriekat, A.2
Mubaidin, A.3
-
56
-
-
79960836347
-
Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism
-
Park JS, Mehta P, Cooper AA, et al. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism. Hum Mutat 2011;32:956-964.
-
(2011)
Hum Mutat
, vol.32
, pp. 956-964
-
-
Park, J.S.1
Mehta, P.2
Cooper, A.A.3
-
57
-
-
84876479782
-
ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons
-
Matsui H, Sato F, Sato S, et al. ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons. FEBS Lett 2013;587:1316-1325.
-
(2013)
FEBS Lett
, vol.587
, pp. 1316-1325
-
-
Matsui, H.1
Sato, F.2
Sato, S.3
-
58
-
-
77953338445
-
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
-
Schneider SA, Paisan-Ruiz C, Quinn NP, et al. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Movement Disord 2010;25:979-984.
-
(2010)
Movement Disord
, vol.25
, pp. 979-984
-
-
Schneider, S.A.1
Paisan-Ruiz, C.2
Quinn, N.P.3
-
59
-
-
27844571985
-
Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
-
Williams DR, Hadeed A, al-Din AS, et al. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Movement Disord 2005;20:1264-1271.
-
(2005)
Movement Disord
, vol.20
, pp. 1264-1271
-
-
Williams, D.R.1
Hadeed, A.2
al-Din, A.S.3
-
60
-
-
77954957723
-
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype
-
Bruggemann N, Hagenah J, Reetz K, et al. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol 2010;67:1357-1363.
-
(2010)
Arch Neurol
, vol.67
, pp. 1357-1363
-
-
Bruggemann, N.1
Hagenah, J.2
Reetz, K.3
-
61
-
-
79951557128
-
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
-
Santoro L, Breedveld GJ, Manganelli F, et al. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. Neurogenetics 2011;12:33-39.
-
(2011)
Neurogenetics
, vol.12
, pp. 33-39
-
-
Santoro, L.1
Breedveld, G.J.2
Manganelli, F.3
-
62
-
-
79551474118
-
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation
-
Crosiers D, Ceulemans B, Meeus B, et al. Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. Parkinsonism Relat D 2011;17:135-138.
-
(2011)
Parkinsonism Relat D
, vol.17
, pp. 135-138
-
-
Crosiers, D.1
Ceulemans, B.2
Meeus, B.3
-
63
-
-
84865069720
-
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
-
Eiberg H, Hansen L, Korbo L, et al. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). Clin Genet 2012;82:256-263.
-
(2012)
Clin Genet
, vol.82
, pp. 256-263
-
-
Eiberg, H.1
Hansen, L.2
Korbo, L.3
-
64
-
-
0020579362
-
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities
-
Woodhouse NJ, Sakati NA. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J Med Genet 1983;20:216-219.
-
(1983)
J Med Genet
, vol.20
, pp. 216-219
-
-
Woodhouse, N.J.1
Sakati, N.A.2
-
65
-
-
80054915445
-
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene
-
Ben-Omran T, Ali R, Almureikhi M, et al. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Am J Med Genet Part A 2011;155A:2647-2653.
-
(2011)
Am J Med Genet Part A
, vol.155A
, pp. 2647-2653
-
-
Ben-Omran, T.1
Ali, R.2
Almureikhi, M.3
-
66
-
-
18244406794
-
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
-
Castelnau P, Cif L, Valente EM, et al. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol 2005;57:738-741.
-
(2005)
Ann Neurol
, vol.57
, pp. 738-741
-
-
Castelnau, P.1
Cif, L.2
Valente, E.M.3
-
67
-
-
80051660738
-
Iron chelation and neuroprotection in neurodegenerative diseases
-
Li X, Jankovic J, Le W. Iron chelation and neuroprotection in neurodegenerative diseases. J Neural Transm 2011;118:473-477.
-
(2011)
J Neural Transm
, vol.118
, pp. 473-477
-
-
Li, X.1
Jankovic, J.2
Le, W.3
|