-
2
-
-
0036212214
-
The genetics of primary dystonias and related disorders
-
Nemeth AH. The genetics of primary dystonias and related disorders. Brain 2002;125:695-721.
-
(2002)
Brain
, vol.125
, pp. 695-721
-
-
Nemeth, A.H.1
-
3
-
-
0031901965
-
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-dopa-responsive dystonia in the Dutch population
-
van den Heuvel LP, Luiten B, Smeitink JA, et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-dopa-responsive dystonia in the Dutch population. Hum Genet 1998;102:644-646.
-
(1998)
Hum. Genet.
, vol.102
, pp. 644-646
-
-
van den Heuvel, L.P.1
Luiten, B.2
Smeitink, J.A.3
-
4
-
-
0034110552
-
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism
-
Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet 2000;64:25-31.
-
(2000)
Ann. Hum. Genet.
, vol.64
, pp. 25-31
-
-
Swaans, R.J.1
Rondot, P.2
Renier, W.O.3
Van Den Heuvel, L.P.4
Steenbergen-Spanjers, G.C.5
Wevers, R.A.6
-
5
-
-
0025370389
-
The genetics of idiopathic torsion dystonia
-
Fletcher NA. The genetics of idiopathic torsion dystonia. J Med Genet 1990;27:409-412.
-
(1990)
J. Med. Genet.
, vol.27
, pp. 409-412
-
-
Fletcher, N.A.1
-
6
-
-
0016906626
-
The primary hereditary dystonias: Genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography
-
Eldridge R, Gottlieb R. The primary hereditary dystonias: genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography. Adv Neurol 1976;14:457-474.
-
(1976)
Adv. Neurol.
, vol.14
, pp. 457-474
-
-
Eldridge, R.1
Gottlieb, R.2
-
7
-
-
0019127998
-
Torsion dystonia in Israel
-
Korczyn AD, Kahana E, Zilber N, Streifler M, Carasso R, Alter M. Torsion dystonia in Israel. Ann Neurol 1980;8:387-391.
-
(1980)
Ann. Neurol.
, vol.8
, pp. 387-391
-
-
Korczyn, A.D.1
Kahana, E.2
Zilber, N.3
Streifler, M.4
Carasso, R.5
Alter, M.6
-
8
-
-
0347913025
-
Contributo clinico alla conoscenza delle forme familiari della dysbasia lordotica progressiva (spasmo, di torsione)
-
Santangelo G. Contributo clinico alla conoscenza delle forme familiari della dysbasia lordotica progressiva (spasmo, di torsione). G Psychiat Neuropat 1934;62:52-77.
-
(1934)
G. Psychiat. Neuropat.
, vol.62
, pp. 52-77
-
-
Santangelo, G.1
-
9
-
-
0023744877
-
Hereditary torsion dystonia in gypsies
-
Gimenez-Roldan S, Delgado G, Marin M, Villanueva JA, Mateo D. Hereditary torsion dystonia in gypsies. Adv Neurol 1988;50:73-81.
-
(1988)
Adv. Neurol.
, vol.50
, pp. 73-81
-
-
Gimenez-Roldan, S.1
Delgado, G.2
Marin, M.3
Villanueva, J.A.4
Mateo, D.5
-
11
-
-
0021467648
-
Autosomal recessive heredity in a Mexican family with torsion dystonia
-
Lisker R, Mutchinick O, Reyes ME, Santos MA, Flores T, Garcia Ramos G. [Autosomal recessive heredity in a Mexican family with torsion dystonia]. Rev Invest Clin 1984;36:265-268.
-
(1984)
Rev. Invest. Clin.
, vol.36
, pp. 265-268
-
-
Lisker, R.1
Mutchinick, O.2
Reyes, M.E.3
Santos, M.A.4
Flores, T.5
Garcia Ramos, G.6
-
12
-
-
0022653723
-
Autosomal recessive idiopathic torsion dystonia in a kindred of mixed ancestry
-
Oswald A, Silber M, Goldblatt J. Autosomal recessive idiopathic torsion dystonia in a kindred of mixed ancestry. S Afr Med J 1986;69:18-20.
-
(1986)
S. Afr. Med. J.
, vol.69
, pp. 18-20
-
-
Oswald, A.1
Silber, M.2
Goldblatt, J.3
-
13
-
-
0347994919
-
Autosomal recessive, DYT-2-like primary torsion dystonia: A new family
-
Khan NL, Wood NW, Bhatia KP. Autosomal recessive, DYT-2-like primary torsion dystonia: a new family. Neurology 2003;61: 1801.
-
(2003)
Neurology
, vol.61
, pp. 1801
-
-
Khan, N.L.1
Wood, N.W.2
Bhatia, K.P.3
-
16
-
-
0036523854
-
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients
-
Zorzi G, Garavaglia B, Invernizzi F, et al. Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov Disord 2002;17:407-408.
-
(2002)
Mov. Disord.
, vol.17
, pp. 407-408
-
-
Zorzi, G.1
Garavaglia, B.2
Invernizzi, F.3
|