-
1
-
-
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
-
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. N Engl J Med 2003; 348: 33-40.
-
(2003)
N Engl J Med
, vol.348
, pp. 33-40
-
-
Hayflick, S.J.1
Westaway, S.K.2
Levinson, B.3
-
3
-
-
0034935036
-
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
-
Zhou B, Westway 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
Westway, S.K.2
Levinson, B.3
-
4
-
-
2342435003
-
Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration
-
Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord 2004; 19: 36-42.
-
(2004)
Mov Disord
, vol.19
, pp. 36-42
-
-
Thomas, M.1
Hayflick, S.J.2
Jankovic, J.3
-
5
-
-
79951899462
-
A novel PANK2 mutation in a patient with atypical pantothenate-kinase-associated neurodegeneration presenting with adult-onset Parkinsonism
-
Seo JH, Song SK, Lee PH. A novel PANK2 mutation in a patient with atypical pantothenate-kinase-associated neurodegeneration presenting with adult-onset Parkinsonism. J Clin Neurol 2009; 5: 192-194.
-
(2009)
J Clin Neurol
, vol.5
, pp. 192-194
-
-
Seo, J.H.1
Song, S.K.2
Lee, P.H.3
-
6
-
-
77649108633
-
Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor
-
Yoon WT, Lee WY, Shin HY, Lee ST, Ki CS. Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor. Mov Disord 2010; 25: 245-247.
-
(2010)
Mov Disord
, vol.25
, pp. 245-247
-
-
Yoon, W.T.1
Lee, W.Y.2
Shin, H.Y.3
Lee, S.T.4
Ki, C.S.5
-
7
-
-
77950234474
-
Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
-
Timmermann L, Pauls KA, Wieland K, et al. Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation. Brain 2010; 133: 701-712.
-
(2010)
Brain
, vol.133
, pp. 701-712
-
-
Timmermann, L.1
Pauls, K.A.2
Wieland, K.3
-
8
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31: 3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
9
-
-
0242658923
-
Five-year follow-up of bilateral stimulation of the subthalamic nucleus in advanced Parkinson's disease
-
Krack P, Batir A, Van Blercom N, et al. Five-year follow-up of bilateral stimulation of the subthalamic nucleus in advanced Parkinson's disease. N Engl J Med 2003; 349: 1925-1934.
-
(2003)
N Engl J Med
, vol.349
, pp. 1925-1934
-
-
Krack, P.1
Batir, A.2
Van Blercom, N.3
-
10
-
-
0021966924
-
Validity and reliability of a rating scale for the primary torsion dystonias
-
Burke RE, Fahn S, Marsden CD, et al. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985; 35: 73-77.
-
(1985)
Neurology
, vol.35
, pp. 73-77
-
-
Burke, R.E.1
Fahn, S.2
Marsden, C.D.3
-
11
-
-
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
-
12
-
-
1642385432
-
Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report
-
Umemura A, Jaggi JL, Dolinskas CA, Stern MB, Baltuch GH. Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report. J Neurosurg 2004; 100: 706-709.
-
(2004)
J Neurosurg
, vol.100
, pp. 706-709
-
-
Umemura, A.1
Jaggi, J.L.2
Dolinskas, C.A.3
Stern, M.B.4
Baltuch, G.H.5
-
13
-
-
33846450632
-
Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration
-
Krause M, Fogel W, Tronnier V, et al. Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration. Mov Disord 2006; 21: 2255-2257.
-
(2006)
Mov Disord
, vol.21
, pp. 2255-2257
-
-
Krause, M.1
Fogel, W.2
Tronnier, V.3
-
14
-
-
36048962050
-
Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration
-
Shields DC, Sharma N, Gale JT, Eskandar EN. Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration. Pediatr Neurol 2007; 37: 442-445.
-
(2007)
Pediatr Neurol
, vol.37
, pp. 442-445
-
-
Shields, D.C.1
Sharma, N.2
Gale, J.T.3
Eskandar, E.N.4
-
15
-
-
57449099943
-
Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration
-
Mikati MA, Yehya A, Darwish H, Karam P, Comair Y. Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol 2009; 13: 61-64.
-
(2009)
Eur J Paediatr Neurol
, vol.13
, pp. 61-64
-
-
Mikati, M.A.1
Yehya, A.2
Darwish, H.3
Karam, P.4
Comair, Y.5
-
16
-
-
41749097047
-
Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia
-
Isaac C, Wright I, Bhattacharyya D, Baxter P, Rowe J. Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia. Arch Dis Child 2008; 93: 239-240.
-
(2008)
Arch Dis Child
, vol.93
, pp. 239-240
-
-
Isaac, C.1
Wright, I.2
Bhattacharyya, D.3
Baxter, P.4
Rowe, J.5
-
17
-
-
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
-
18
-
-
67651146686
-
Factors predicting improvement in primary generalized dystonia treated by pallidal deep brain stimulation
-
Vasques X, Cif L, Gonzalez V, Nicholson C, Coubes P. Factors predicting improvement in primary generalized dystonia treated by pallidal deep brain stimulation. Mov Disord 2009; 24: 846-853.
-
(2009)
Mov Disord
, vol.24
, pp. 846-853
-
-
Vasques, X.1
Cif, L.2
Gonzalez, V.3
Nicholson, C.4
Coubes, P.5
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