-
1
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hal-lervorden-Spatz syndrome
-
Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ch-ing KH, et al. Genetic, clinical, and radiographic delineation of Hal-lervorden-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
Zhou, B.4
Johnson, M.A.5
Ch-Ing, K.H.6
-
2
-
-
0034935036
-
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
-
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hay-flick SJ. 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
Johnson, M.A.4
Gitschier, J.5
Hay-Flick, S.J.6
-
3
-
-
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
-
4
-
-
2342435003
-
Clinical heterogeneity of neu-rodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration
-
Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neu-rodegeneration 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
-
-
16144365391
-
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
-
Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, 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
Pandolfo, M.4
Angelini, L.5
Nardocci, N.6
-
6
-
-
32044455822
-
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
-
Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, 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
Hörtnagel, K.2
Garavaglia, B.3
Zorzi, G.4
Kmiec, T.5
Klopstock, T.6
-
7
-
-
36248963125
-
A novel PANK2 gene mutation: Clinical and molecular characteristics of patients short communication
-
Kazek B, Jamroz E, Gencik M, Jezela Stanek A, Marszal E, Wojac-zynska-Stanek K. A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication. J Child Neurol 2007;22:1256-1259.
-
(2007)
J Child Neurol
, vol.22
, pp. 1256-1259
-
-
Kazek, B.1
Jamroz, E.2
Gencik, M.3
Jezela Stanek, A.4
Marszal, E.5
Wojac-zynska-Stanek, K.6
-
8
-
-
33645550639
-
Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neuro-degeneration
-
Antonini A, Goldwurn S, Benti R, Prokisch H, Ebhardt M, Cilia R, et al. Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neuro-degeneration. Mov Disord 2006;21:417-418.
-
(2006)
Mov Disord
, vol.21
, pp. 417-418
-
-
Antonini, A.1
Goldwurn, S.2
Benti, R.3
Prokisch, H.4
Ebhardt, M.5
Cilia, R.6
|