-
1
-
-
0034848843
-
Nemaline myopathy: A clinical study of 143 cases
-
Ryan MM, Schnell C., Strickland CD, Shield LK, Morgan G., Iannaccone ST, Laing NG, Beggs AH, North KN Nemaline myopathy: A clinical study of 143 cases. Ann Neurol. 2001;50:312-320.
-
(2001)
Ann Neurol.
, vol.50
, pp. 312-320
-
-
Ryan, M.M.1
Schnell, C.2
Strickland, C.D.3
Shield, L.K.4
Morgan, G.5
Iannaccone, S.T.6
Laing, N.G.7
Beggs, A.H.8
North, K.N.9
-
2
-
-
0003720078
-
-
8th ed. New York: McGraw-Hill
-
Scriver CR, Beaudet AL, Sly WS, Valle D., Childs B., Kinzler KW, Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Scriver, C.R.1
Beaudet, A.L.2
Sly, W.S.3
Valle, D.4
Childs, B.5
Kinzler, K.W.6
Vogelstein, B.7
-
3
-
-
0024393561
-
A new treatment for congenital nonprogressive nemaline myopathy
-
Kalita D. A new treatment for congenital nonprogressive nemaline myopathy. J Orthomol Med. 1989;2:70-74.
-
(1989)
J Orthomol Med.
, vol.2
, pp. 70-74
-
-
Kalita, D.1
-
4
-
-
0042164491
-
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands
-
Wallgren-Pettersson C., Laing NG 109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. Neuromusc Disord. 2003;13:501-507.
-
(2003)
Neuromusc Disord.
, vol.13
, pp. 501-507
-
-
Wallgren-Pettersson, C.1
Laing, N.G.2
-
5
-
-
0028852835
-
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
-
Laing NG, Wilton SD, Akkari PA, Dorosz S., Boundy K., Kneebone C., Blumbergs P., White S., Watkins H., Love DR, Haan E. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995;9:75-79.
-
(1995)
Nat Genet.
, vol.9
, pp. 75-79
-
-
Laing, N.G.1
Wilton, S.D.2
Akkari, P.A.3
Dorosz, S.4
Boundy, K.5
Kneebone, C.6
Blumbergs, P.7
White, S.8
Watkins, H.9
Love, D.R.10
Haan, E.11
-
6
-
-
0003499342
-
-
Her Majesty's Stationery Office. London: Medical Research Council Memorandum no 45
-
Her Majesty's Stationery Office. Aids to the Examination of the Peripheral Nervous System. London: Medical Research Council Memorandum no 45;1976.
-
(1976)
Aids to the Examination of the Peripheral Nervous System
-
-
-
7
-
-
73649200203
-
Management of progressive muscular dystrophy of childhood
-
Vignos PJ, Spencer GE, Archibald KC Management of progressive muscular dystrophy of childhood. JAMA. 1963;184:89-96.
-
(1963)
JAMA
, vol.184
, pp. 89-96
-
-
Vignos, P.J.1
Spencer, G.E.2
Archibald, K.C.3
-
10
-
-
0842266486
-
Management of drooling
-
Brei TJ Management of drooling. Semin Pediatr Neurol. 2003;10:265-270.
-
(2003)
Semin Pediatr Neurol.
, vol.10
, pp. 265-270
-
-
Brei, T.J.1
-
11
-
-
0002274105
-
The sympathetic nervous system
-
In: Kandel ER, Schwartz JH, Jessel TM, eds. 3rd ed. London: Appleton and Lange
-
Dodd J., Role LW The sympathetic nervous system. In: Kandel ER, Schwartz JH, Jessel TM, eds. Principles of Neural Science. 3rd ed. London: Appleton and Lange; 1991:761-777.
-
(1991)
Principles of Neural Science
, pp. 761-777
-
-
Dodd, J.1
Role, L.W.2
-
12
-
-
0036523866
-
Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy
-
Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VS, Earl J., Wilcken B. Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy. Mov Disord. 2002;17:354-359.
-
(2002)
Mov Disord.
, vol.17
, pp. 354-359
-
-
Grattan-Smith, P.J.1
Wevers, R.A.2
Steenbergen-Spanjers, G.C.3
Fung, V.S.4
Earl, J.5
Wilcken, B.6
-
13
-
-
0020075893
-
Effects of oral tyrosine administration on CSF tyrosine and homovanillic acid levels in patients with Parkinson's disease
-
Growdon JH, Melamed E., Logu M., Hefti F., Wurtman RJ Effects of oral tyrosine administration on CSF tyrosine and homovanillic acid levels in patients with Parkinson's disease. Life Sci. 1982;30:827-832.
-
(1982)
Life Sci.
, vol.30
, pp. 827-832
-
-
Growdon, J.H.1
Melamed, E.2
Logu, M.3
Hefti, F.4
Wurtman, R.J.5
-
14
-
-
0034820109
-
Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids
-
Kalsner LR, Rohr FJ, Strauss KA, Korson MS, Levy HL Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids. J Pediatr. 2001;139:421-427.
-
(2001)
J Pediatr.
, vol.139
, pp. 421-427
-
-
Kalsner, L.R.1
Rohr, F.J.2
Strauss, K.A.3
Korson, M.S.4
Levy, H.L.5
-
15
-
-
0019429230
-
Changes in catecholamine excretion after short-term tyrosine ingestion in normally fed human subjects
-
Agharanya JC, Alonso R., Wurtman RJ Changes in catecholamine excretion after short-term tyrosine ingestion in normally fed human subjects. Am J Clin Nutr. 1981;34:82-87.
-
(1981)
Am J Clin Nutr.
, vol.34
, pp. 82-87
-
-
Agharanya, J.C.1
Alonso, R.2
Wurtman, R.J.3
-
16
-
-
0025317941
-
Biochemical and clinical effects of tyrosine and tryptophan in Rett syndrome
-
Nielsen JB, Lou HC, Andresen J. Biochemical and clinical effects of tyrosine and tryptophan in Rett syndrome. Brain Dev. 1990;12:143-147.
-
(1990)
Brain Dev.
, vol.12
, pp. 143-147
-
-
Nielsen, J.B.1
Lou, H.C.2
Andresen, J.3
-
17
-
-
0026539648
-
Cognition and tyrosine supplementation among school-aged children with phenylketonuria
-
Mazzocco MM, Yannicelli S., Nord AM, van Doorninck W., Davidson-Mundt AJ, Greene CL Cognition and tyrosine supplementation among school-aged children with phenylketonuria. Am J Dis Child. 1992;146:1261-1264.
-
(1992)
Am J Dis Child.
, vol.146
, pp. 1261-1264
-
-
Mazzocco, M.M.1
Yannicelli, S.2
Nord, A.M.3
van Doorninck, W.4
Davidson-Mundt, A.J.5
Greene, C.L.6
-
18
-
-
0024273038
-
Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine
-
Lykkelund C., Nielsen JB, Rasmussen V., Rasmussen V., Gerdes AM, Christensen E., Guttler F. Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine. Eur J Pediatr. 1988;148:238-245.
-
(1988)
Eur J Pediatr.
, vol.148
, pp. 238-245
-
-
Lykkelund, C.1
Nielsen, J.B.2
Rasmussen, V.3
Rasmussen, V.4
Gerdes, A.M.5
Christensen, E.6
Guttler, F.7
-
19
-
-
0029609735
-
Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria
-
Pietz J., Landwehr R., Kutscha A., Schmidt H., de Sonneville L., Trefz FK Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria. J Pediatr. 1995;127:936-943.
-
(1995)
J Pediatr.
, vol.127
, pp. 936-943
-
-
Pietz, J.1
Landwehr, R.2
Kutscha, A.3
Schmidt, H.4
de Sonneville, L.5
Trefz, F.K.6
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