-
2
-
-
0031908798
-
Transient movements disorders in children
-
E. Fernández-Alvarez 1998 Transient movements disorders in children J Neurol 245 1 5
-
(1998)
J Neurol
, vol.245
, pp. 1-5
-
-
Fernández-Alvarez, E.1
-
3
-
-
66649092067
-
Transient movement disorders of infancy and childhood
-
John Libbey Eurotext Paris
-
Moharir MD, Ouvrier RA, Grattan-Smith P Transient movement disorders of infancy and childhood In Fernández-Alvarez E, Arzimanogolou A, Tolosa E, eds. Paediatric movement disorders. Paris; John Libbey Eurotext, 2005.
-
(2005)
Paediatric Movement Disorders
-
-
Moharir, M.D.1
Ouvrier, R.A.2
Grattan-Smith, P.3
Fernández-Alvarez, E.4
Arzimanogolou, A.5
Tolosa, E.6
-
5
-
-
9244235018
-
Toward a definition of childhood dystonia
-
DOI 10.1097/01.mop.0000142487.90041.a2
-
T.D. Sanger 2004 Toward a definition of childhood dystonia Curr Opin Pediatr 16 623 627 (Pubitemid 39552210)
-
(2004)
Current Opinion in Pediatrics
, vol.16
, Issue.6
, pp. 623-627
-
-
Sanger, T.D.1
-
6
-
-
39149087968
-
DYT16, a novel young-onset dystonia-parkinsonism disorder: Identification of a segregating mutation in the stress-response protein PRKRA
-
S. Camargos S. Scholtz J. Simón-Sanchez C. Paisán-Ruiz P. Lewis 2008 DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA Lancet Neurol 7 215 222
-
(2008)
Lancet Neurol
, vol.7
, pp. 215-222
-
-
Camargos, S.1
Scholtz, S.2
Simón-Sanchez, J.3
Paisán-Ruiz, C.4
Lewis, P.5
-
7
-
-
39549102002
-
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
-
N. Nardocci G. Zorzi C. Barzaghi F. Zibordi C. Ciano 2008 Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families Mov Disord 23 28 34
-
(2008)
Mov Disord
, vol.23
, pp. 28-34
-
-
Nardocci, N.1
Zorzi, G.2
Barzaghi, C.3
Zibordi, F.4
Ciano, C.5
-
8
-
-
0000138089
-
Disorders of tetrahydrobiopterin and related biogenic amines
-
8 McGraw-Hill New York
-
Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In Scriver CR, Beaudet AL, Sly Ws et al. eds. The metabolic and molecular bases of inhereted disease, 8th ed. New York: McGraw-Hill, 2001; 1725-1776.
-
(2001)
The Metabolic and Molecular Bases of Inhereted Disease
, pp. 1725-1776
-
-
Blau, N.1
Thöny, B.2
Cotton, R.G.H.3
Hyland, K.4
Scriver, C.R.5
Beaudet, A.L.6
Sly, W.7
-
9
-
-
0037469186
-
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency
-
N. Nardocci G. Zorzi N. Blau E. Fernandez-Alvarez M. Sesta L. Angelini 2003 Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency Neurology 60 335 337 (Pubitemid 36152035)
-
(2003)
Neurology
, vol.60
, Issue.2
, pp. 335-337
-
-
Nardocci, N.1
Zorzi, G.2
Blau, N.3
Fernandez Alvarez, E.4
Sesta, M.5
Angelini, L.6
Pannacci, M.7
Invernizzi, F.8
Garavaglia, B.9
-
12
-
-
20444412260
-
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
-
DOI 10.1212/01.WNL.0000164000.75046.CC
-
F. Asmus V. Horber J. Pohlenz D. Schwabe A. Zimprich 2005 A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa Neurology 64 1952 1954 (Pubitemid 40800715)
-
(2005)
Neurology
, vol.64
, Issue.11
, pp. 1952-1954
-
-
Asmus, F.1
Horber, V.2
Pohlenz, J.3
Schwabe, D.4
Zimprich, A.5
Munz, M.6
Schoning, M.7
Gasser, T.8
-
13
-
-
0030766418
-
Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16
-
P. Szepetowski J. Rochette P. Berquin C. Piussan G.M. Lathrop A.P. Monaco 1997 Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 Am J Hum Genet 61 889 898 (Pubitemid 27418464)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.4
, pp. 889-898
-
-
Szepetowski, P.1
Rochette, J.2
Berquin, P.3
Piussan, C.4
Lathrop, G.M.5
Monaco, A.P.6
-
14
-
-
0033055535
-
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2
-
DOI 10.1002/1531-8249(199903)45:3<344::AID-ANA10>3.0.CO;2-9
-
R. Guerrini P. Bonanni N. Nardocci L. Parmeggiani M. Piccirilli 1999 Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2 Ann Neurol 45 344 352 (Pubitemid 29120039)
-
(1999)
Annals of Neurology
, vol.45
, Issue.3
, pp. 344-352
-
-
Guerrini, R.1
Bonanni, P.2
Nardocci, N.3
Parmeggiani, L.4
Piccirilli, M.5
De Fusco, M.6
Aridon, P.7
Ballabio, A.8
Carrozzo, R.9
Casari, G.10
-
15
-
-
0033139855
-
Benign epileptic seizures in infancy followed by paroxysmal choreo-athetosis during adolescence
-
C. Koch N. Bednarek J. Motta 1999 Benign epileptic seizures in infancy followed by paroxysmal choreo-athetosis during adolescence Epileptic Disord 2 141 142
-
(1999)
Epileptic Disord
, vol.2
, pp. 141-142
-
-
Koch, C.1
Bednarek, N.2
Motta, J.3
-
16
-
-
0033868150
-
Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies
-
K.J. Swoboda B.W. Soong C. [tmp] McKenna 2000 Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies Neurology 55 224 230 (Pubitemid 30604622)
-
(2000)
Neurology
, vol.55
, Issue.2
, pp. 224-230
-
-
Swoboda, K.J.1
Soong, B.-W.2
McKenna, C.3
Brunt, E.R.P.4
Litt, M.5
Bale Jr., J.F.6
Ashizawa, T.7
Bennett, L.B.8
Bowcock, A.M.9
Roach, E.S.10
Gerson, D.11
Matsuura, T.12
Heydemann, P.T.13
Nespeca, M.P.14
Jankovic, J.15
Leppert, M.16
Ptacek, L.J.17
-
17
-
-
0036797440
-
Early-onset absence epilepsy and paroxysmal dyskinesia
-
DOI 10.1046/j.1528-1157.2002.13802.x
-
R. Guerrini R. Sanchez-Carpintero T. Deonna M. Santucci K. Bhatia 2002 Early-onset absence epilepsy and paroxysmal dyskinesia Epilpesia 43 1224 1229 (Pubitemid 35176131)
-
(2002)
Epilepsia
, vol.43
, Issue.10
, pp. 1224-1229
-
-
Guerrini, R.1
Sanchez-Carpintero, R.2
Deonna, T.3
Santucci, M.4
Bhatia, K.P.5
Moreno, T.6
Parmeggiani, L.7
Dalla Bernardina, B.8
-
18
-
-
0030027095
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
-
G. Auburger T. Ratlaff A. Lukes H.W. Nelles B. Leube 1996 A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197 Genomics 31 90 94
-
(1996)
Genomics
, vol.31
, pp. 90-94
-
-
Auburger, G.1
Ratlaff, T.2
Lukes, A.3
Nelles, H.W.4
Leube, B.5
-
19
-
-
46849102968
-
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2AI, encoding the glucose transporter GLUTI
-
A. Suls P. Dedeken K. Goffin H. Van Esch P. Dupont 2008 Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2AI, encoding the glucose transporter GLUTI Brain 131 1831 1844
-
(2008)
Brain
, vol.131
, pp. 1831-1844
-
-
Suls, A.1
Dedeken, P.2
Goffin, K.3
Van Esch, H.4
Dupont, P.5
-
21
-
-
13944254442
-
Tourette's syndrome: From behaviour to biology
-
DOI 10.1016/S1474-4422(05)01012-4
-
H.S. Singer 2005 Tourette's syndrome: from behaviour to biology Lancet Neurol 4 149 159 (Pubitemid 40269145)
-
(2005)
Lancet Neurology
, vol.4
, Issue.3
, pp. 149-159
-
-
Singer, H.S.1
-
22
-
-
0023193273
-
Onset of Gilles de la Tourette's syndrome before 1 year of age
-
L. Burd J. Kerbershian 1987 Onset of Gilles de la Tourette's syndrome before 1 year of age Am J Psychiatry 144 1066 1067 (Pubitemid 17143570)
-
(1987)
American Journal of Psychiatry
, vol.144
, Issue.8
, pp. 1066-1067
-
-
Burd, L.1
Kerbeshian, J.2
|