-
1
-
-
0033826920
-
Adult care in phenylketonuria and hyperphenylalaninaemia: The relevance of neurological abnormalities
-
Brenton DP, Pietz J (2000) Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. Eur J Pediatr 159(Suppl 2):S114-S120
-
(2000)
Eur J Pediatr
, vol.159
, Issue.2 SUPPL.
-
-
Brenton, D.P.1
Pietz, J.2
-
2
-
-
0035412909
-
Electrophysiological aids to the diagnosis of psychogenic jerks, spasms and tremor
-
Brown P, Thompson PD (2001) Electrophysiological aids to the diagnosis of psychogenic jerks, spasms and tremor. Mov Disord 16:595-599
-
(2001)
Mov Disord
, vol.16
, pp. 595-599
-
-
Brown, P.1
Thompson, P.D.2
-
3
-
-
0034120708
-
Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment
-
Burlina AB, Bonafé L, Ferrari V, Suppiej A, Zacchello F, Burlina AP (2000) Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment. J Inherit Metab Dis 23:313-316
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 313-316
-
-
Burlina, A.B.1
Bonafé, L.2
Ferrari, V.3
Suppiej, A.4
Zacchello, F.5
Burlina, A.P.6
-
4
-
-
0028298895
-
Magnetic resonance imaging of the brain in phenylketonuria
-
Cleary MA, Walter JH, Wraith JE, et al. (1994) Magnetic resonance imaging of the brain in phenylketonuria. Lancet 344:87-90
-
(1994)
Lancet
, vol.344
, pp. 87-90
-
-
Cleary, M.A.1
Walter, J.H.2
Wraith, J.E.3
-
6
-
-
0033006688
-
Pathophysiology of phenylketonuria
-
Dyer CA (1999) Pathophysiology of phenylketonuria. MRDD Research Reviews 5:104-112
-
(1999)
MRDD Research Reviews
, vol.5
, pp. 104-112
-
-
Dyer, C.A.1
-
7
-
-
0029949925
-
Evidence for central nervous system glial cell plasticity in phenylketonuria
-
Dyer CA, Kendler A, Philibotte T, et al. (1996) Evidence for central nervous system glial cell plasticity in phenylketonuria. J Neuropathol Exp Neurol 55:795-814
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 795-814
-
-
Dyer, C.A.1
Kendler, A.2
Philibotte, T.3
-
8
-
-
0002917606
-
The pathophysiology of tremor
-
McGraw-Hill (ed) New York
-
Elble RJ (1997) The pathophysiology of tremor. In: McGraw-Hill (ed) Movement Disorders. New York, pp 405-417
-
(1997)
Movement Disorders
, pp. 405-417
-
-
Elble, R.J.1
-
9
-
-
7244255925
-
L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings
-
Evans AH, Costa DC, Gacinovic S, Katzenschlager R, O'Sullivan JD, Heales S, Lee P, Lees AJ (2004) L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: in vivo dopamine transporter and D2 receptor findings. Mov Disord 19:1232-1236
-
(2004)
Mov Disord
, vol.19
, pp. 1232-1236
-
-
Evans, A.H.1
Costa, D.C.2
Gacinovic, S.3
Katzenschlager, R.4
O'Sullivan, J.D.5
Heales, S.6
Lee, P.7
Lees, A.J.8
-
10
-
-
21244501270
-
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninemia: Experience in a pediatric population in Catalonia
-
in press
-
Gassió R, Artuch R, Vilaseca MA, Fusté E, Boix C, Sans A, Campistol J (2005) Cognitive functions in classic phenylketonuria and mild hyperphenylalaninemia: Experience in a pediatric population in Catalonia. Dev Med Child Neurol (in press)
-
(2005)
Dev Med Child Neurol
-
-
Gassió, R.1
Artuch, R.2
Vilaseca, M.A.3
Fusté, E.4
Boix, C.5
Sans, A.6
Campistol, J.7
-
11
-
-
84944358487
-
Phenylpyruvic oligophrenia: Introductory study of 50 cases of mental deficiency associated with excretion of phenylpyruvic acid
-
Jervis GA (1937) Phenylpyruvic oligophrenia: introductory study of 50 cases of mental deficiency associated with excretion of phenylpyruvic acid. Arch Neurol Psychiatry 38:944-963
-
(1937)
Arch Neurol Psychiatry
, vol.38
, pp. 944-963
-
-
Jervis, G.A.1
-
12
-
-
0028824019
-
Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients
-
Leuzzi V, Trasimeni G, Gualdi GF, Antonozzi I (1995) Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients. J Inher Metab Dis 18:624-634
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 624-634
-
-
Leuzzi, V.1
Trasimeni, G.2
Gualdi, G.F.3
Antonozzi, I.4
-
13
-
-
0030994322
-
The Washington Heights essential tremor study: Methodologic issues in essential-tremor research
-
Louis ED, Ottman RA, Ford B, et al. (1997) The Washington Heights essential tremor study: methodologic issues in essential-tremor research. Neuroepidemiology 16:124-133
-
(1997)
Neuroepidemiology
, vol.16
, pp. 124-133
-
-
Louis, E.D.1
Ottman, R.A.2
Ford, B.3
-
14
-
-
0035241268
-
A teaching videotape for the assessment of essential tremor
-
Louis ED, Barnes L, Wendt KJ, et al. (2001) A teaching videotape for the assessment of essential tremor. Mov Disord 16:89-93
-
(2001)
Mov Disord
, vol.16
, pp. 89-93
-
-
Louis, E.D.1
Barnes, L.2
Wendt, K.J.3
-
15
-
-
0035412907
-
Comparison of clinical vs. electrophysiological methods of diagnosing of essential tremor
-
Louis ED, Pullman SL (2001) Comparison of clinical vs. electrophysiological methods of diagnosing of essential tremor. Mov Disord 16:668-673
-
(2001)
Mov Disord
, vol.16
, pp. 668-673
-
-
Louis, E.D.1
Pullman, S.L.2
-
16
-
-
0013900696
-
Neuropathology of phenylketonuria
-
Malamud N (1966) Neuropathology of phenylketonuria. J Neuropathol Exp Neurol 25:254-268
-
(1966)
J Neuropathol Exp Neurol
, vol.25
, pp. 254-268
-
-
Malamud, N.1
-
17
-
-
0031962677
-
A neurological evaluation of adult phenylketonuria in Northern Ireland
-
McDonnell GV, Esmonde TF, Hadden DR, Morrow JI (1998) A neurological evaluation of adult phenylketonuria in Northern Ireland. Eur Neurol 39(1):38-43
-
(1998)
Eur Neurol
, vol.39
, Issue.1
, pp. 38-43
-
-
McDonnell, G.V.1
Esmonde, T.F.2
Hadden, D.R.3
Morrow, J.I.4
-
18
-
-
0034882352
-
Electromyographic differentiation of tremors
-
Milanov I (2001) Electromyographic differentiation of tremors. Clin Neurophysiol 112:1626-1632
-
(2001)
Clin Neurophysiol
, vol.112
, pp. 1626-1632
-
-
Milanov, I.1
-
19
-
-
0016289112
-
Neurological abnormalities in phenylketonuria
-
Pedersen HE, Birket-Smith E (1974) Neurological abnormalities in phenylketonuria. Acta Neurol Scand 50:589-594
-
(1974)
Acta Neurol Scand
, vol.50
, pp. 589-594
-
-
Pedersen, H.E.1
Birket-Smith, E.2
-
20
-
-
0031796244
-
Neurological aspects of adult phenylketonuria
-
Pietz J (1998) Neurological aspects of adult phenylketonuria. Curr Opin Neurol 11:679-688
-
(1998)
Curr Opin Neurol
, vol.11
, pp. 679-688
-
-
Pietz, J.1
-
21
-
-
0031688522
-
Neurological outcome in adult patients with early-treated phenylketonuria
-
Pietz J, Dunckelmann R, Rupp A, et al. (1998) Neurological outcome in adult patients with early-treated phenylketonuria. Eur J Pediatr 157:824-830
-
(1998)
Eur J Pediatr
, vol.157
, pp. 824-830
-
-
Pietz, J.1
Dunckelmann, R.2
Rupp, A.3
-
22
-
-
3843098263
-
Tremor analysis in two normal cohorts
-
Raethjen J, Lauk M, Köster B, Fietzek U, Friege L, Timmer J, Lücking CH, Deuschl G (2004) Tremor analysis in two normal cohorts. Clin Neurophysiol 115:2151-2156
-
(2004)
Clin Neurophysiol
, vol.115
, pp. 2151-2156
-
-
Raethjen, J.1
Lauk, M.2
Köster, B.3
Fietzek, U.4
Friege, L.5
Timmer, J.6
Lücking, C.H.7
Deuschl, G.8
-
23
-
-
0000134296
-
The hyperphenylalaninemias
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) New York: McGraw Hill
-
th ed, New York: McGraw Hill, pp 1667-1724
-
(2001)
th Ed
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, C.2
Eisensmith, R.C.3
Woo, S.L.C.4
-
24
-
-
0027254260
-
Brain MRI changes in phenylketonuria. Associations with dietary status
-
Thompson AJ, Tillotson S, Smith I, Kendall B, Moore SG, Brenton DP (1993) Brain MRI changes in phenylketonuria. Associations with dietary status. Brain 116:811-821
-
(1993)
Brain
, vol.116
, pp. 811-821
-
-
Thompson, A.J.1
Tillotson, S.2
Smith, I.3
Kendall, B.4
Moore, S.G.5
Brenton, D.P.6
-
25
-
-
0028028152
-
8-12 Hz rhythmic oscillations in human motor cortex during two-dimensional arm movements: Evidence for representation of kinematic paremeters
-
Toro C, Cox C, Friehs G, et al. (1994) 8-12 Hz rhythmic oscillations in human motor cortex during two-dimensional arm movements: Evidence for representation of kinematic paremeters. Electroencephalogr Clin Neurophysiol 93:390-403
-
(1994)
Electroencephalogr Clin Neurophysiol
, vol.93
, pp. 390-403
-
-
Toro, C.1
Cox, C.2
Friehs, G.3
-
26
-
-
0027378062
-
Cortical tremor: A common manifestation of cortical myoclonus
-
Toro C, Pascual-Leone A, Deuschl G, et al. (1993) Cortical tremor: A common manifestation of cortical myoclonus. Neurology 43:2346-2353
-
(1993)
Neurology
, vol.43
, pp. 2346-2353
-
-
Toro, C.1
Pascual-Leone, A.2
Deuschl, G.3
-
28
-
-
0028948626
-
Neurological findings in early treated phenylketonuria
-
Weglage J, Pietsch M, Fünders B, Koch HG, Ullrich K (1995) Neurological findings in early treated phenylketonuria. Acta Paediatr 84:411-415
-
(1995)
Acta Paediatr
, vol.84
, pp. 411-415
-
-
Weglage, J.1
Pietsch, M.2
Fünders, B.3
Koch, H.G.4
Ullrich, K.5
-
29
-
-
0031593357
-
Benefits of normalizing plasma phenylalanine: Impact on behaviour and health. A case report
-
Williams K (1998) Benefits of normalizing plasma phenylalanine: Impact on behaviour and health. A case report. J Inher Metab Dis 21:785-790
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 785-790
-
-
Williams, K.1
|