-
1
-
-
2642623520
-
Muscle and serum enzymes in muscular dystrophy and neurogenic muscular atrophy
-
Milhorat AT (ed): Exploratory Concepts in Muscular Dystrophy and Related Disorders. Amsterdam
-
Heyck H, Laudahn G: Muscle and serum enzymes in muscular dystrophy and neurogenic muscular atrophy; in Milhorat AT (ed): Exploratory Concepts in Muscular Dystrophy and Related Disorders. Excerpta Med, Int Congr Ser, Amsterdam 1967;147:232-240.
-
(1967)
Excerpta Med, Int Congr Ser
, vol.147
, pp. 232-240
-
-
Heyck, H.1
Laudahn, G.2
-
2
-
-
0014255494
-
Infantile and juvenile spinal muscular atrophy
-
Hausmanowa-Petrusewicz I, Askanas W, Badurska B, Emeryk B, Fidzianska A, Garbalinska W, Hetnarska L, Jedrezejowska H, Kamieniecka Z, Niebroj-Dobosz I, Prot J, Sawicka E: Infantile and juvenile spinal muscular atrophy. J Neurol Sci 1968;6:269-287.
-
(1968)
J Neurol Sci
, vol.6
, pp. 269-287
-
-
Hausmanowa-Petrusewicz, I.1
Askanas, W.2
Badurska, B.3
Emeryk, B.4
Fidzianska, A.5
Garbalinska, W.6
Hetnarska, L.7
Jedrezejowska, H.8
Kamieniecka, Z.9
Niebroj-Dobosz, I.10
Prot, J.11
Sawicka, E.12
-
3
-
-
0014257512
-
Creatine phosphokinase activity in spinal muscular atrophy
-
Hetnarska L, Prot J, Sawicka E: Creatine phosphokinase activity in spinal muscular atrophy. J Neurol Sci 1968;6:261-267.
-
(1968)
J Neurol Sci
, vol.6
, pp. 261-267
-
-
Hetnarska, L.1
Prot, J.2
Sawicka, E.3
-
4
-
-
0015546339
-
Benign infantile spinal muscular atrophy. A prospective study
-
Van Wijngaarden GK, Bethlem J: Benign infantile spinal muscular atrophy. A prospective study. Brain 1973;96:163-170.
-
(1973)
Brain
, vol.96
, pp. 163-170
-
-
Van Wijngaarden, G.K.1
Bethlem, J.2
-
5
-
-
0025812266
-
Wohlfart-Kugelberg-Welander syndrome: Serum creatine kinase and functional outcome
-
Dorsher PT, Sinaki M, Mulder DW, Litchy WJ, Ilstrup DM: Wohlfart-Kugelberg-Welander syndrome: Serum creatine kinase and functional outcome. Arch Phys Med Rehabil 1991; 72:587-591.
-
(1991)
Arch Phys Med Rehabil
, vol.72
, pp. 587-591
-
-
Dorsher, P.T.1
Sinaki, M.2
Mulder, D.W.3
Litchy, W.J.4
Ilstrup, D.M.5
-
6
-
-
0014106645
-
Progressive spinal muscular atrophy with onset in infancy or early childhood
-
Gamstorp I: Progressive spinal muscular atrophy with onset in infancy or early childhood. Acta Paediatr Scand 1967;56:408-423.
-
(1967)
Acta Paediatr Scand
, vol.56
, pp. 408-423
-
-
Gamstorp, I.1
-
7
-
-
0018903815
-
Spinal muscular atrophy and hypertrophy of the calves
-
Bouwsma G, van Wijngaarden GK: Spinal muscular atrophy and hypertrophy of the calves. J Neurol Sci 1980;44:275-279.
-
(1980)
J Neurol Sci
, vol.44
, pp. 275-279
-
-
Bouwsma, G.1
Van Wijngaarden, G.K.2
-
9
-
-
0001510209
-
Meeting report
-
International SMA Consortium: Meeting report. Neuromusc Disord 1992;2:423-428.
-
(1992)
Neuromusc Disord
, vol.2
, pp. 423-428
-
-
-
10
-
-
0028904953
-
Natural history of proximal spinal muscular atrophy
-
Zerres K, Rudnik-Schöneborn S: Natural history of proximal spinal muscular atrophy. Arch Neurol 1995;52:518-523.
-
(1995)
Arch Neurol
, vol.52
, pp. 518-523
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
-
11
-
-
0031587699
-
Collaborative study on the natural history of patients with childhood and juvenile onset spinal muscular atrophy (type II and III SMA): 569 patients
-
Zerres K, Rudnik-Schöneborn S, Borkowska J, Forrest E, Lusakowska A, Hausmanowa-Petrusewicz I: Collaborative study on the natural history of patients with childhood and juvenile onset spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997;146:67-72.
-
(1997)
J Neurol Sci
, vol.146
, pp. 67-72
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
Forrest E, B.J.3
Lusakowska, A.4
Hausmanowa-Petrusewicz, I.5
-
12
-
-
0017820714
-
The use of serum creatine phosphokinase in genetic counseling for Duchenne muscular dystrophy
-
Gale AN, Murphy EA: The use of serum creatine phosphokinase in genetic counseling for Duchenne muscular dystrophy. J Chronic Dis 1978;31:101-109.
-
(1978)
J Chronic Dis
, vol.31
, pp. 101-109
-
-
Gale, A.N.1
Murphy, E.A.2
-
15
-
-
0026062924
-
Statistical criteria for separate reference intervals: Race and gender groups in creatine kinase
-
Harris EK, Wong ET, Shaw ST: Statistical criteria for separate reference intervals: Race and gender groups in creatine kinase. Clin Chem 1991;37:1580-1582.
-
(1991)
Clin Chem
, vol.37
, pp. 1580-1582
-
-
Harris, E.K.1
Wong, E.T.2
Shaw, S.T.3
-
16
-
-
2642620481
-
-
Orlando, Holt, Rinehart & Winston
-
Hay WL: Statistics, ed. 4. Orlando, Holt, Rinehart & Winston, 1988.
-
(1988)
Statistics, Ed. 4.
-
-
Hay, W.L.1
-
18
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Bürglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Le Paslier, D.11
Frézal, J.12
Cohen, D.13
Weissenbach, J.14
Munnich, A.15
Melki, J.16
-
19
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
-
Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B: Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995;4:1927-1933.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-1933
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
Rudnik-Schöneborn, S.4
Schönling, J.5
Zerres, K.6
Wirth, B.7
-
20
-
-
0021350352
-
Sampling from a skewed population distribution as exemplified by estimation of the creatine kinase upper reference limit
-
Miller WG, Chinchilli VM, Gruemer H-D, Nance WE: Sampling from a skewed population distribution as exemplified by estimation of the creatine kinase upper reference limit. Clin Chem 1984;30:18-23.
-
(1984)
Clin Chem
, vol.30
, pp. 18-23
-
-
Miller, W.G.1
Chinchilli, V.M.2
Gruemer, H.-D.3
Nance, W.E.4
-
21
-
-
0025040439
-
Heterogeneity in proximal spinal muscular atrophy
-
Zerres K, Rudnik-Schöneborn S, Rietschel M: Heterogeneity in proximal spinal muscular atrophy. Lancet 1989;336:749-750.
-
(1989)
Lancet
, vol.336
, pp. 749-750
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
Rietschel, M.3
-
22
-
-
0020569815
-
Heterogeneity of serum creatine kinase activity among racial and gender groups of the population
-
Wong ET, Cobb C, Umehara MK, Wolff GA, Haywood LJ, Greenberg T, Shaw ST: Heterogeneity of serum creatine kinase activity among racial and gender groups of the population. Am J Clin Pathol 1983;79:582-586.
-
(1983)
Am J Clin Pathol
, vol.79
, pp. 582-586
-
-
Wong, E.T.1
Cobb, C.2
Umehara, M.K.3
Wolff, G.A.4
Haywood, L.J.5
Greenberg, T.6
Shaw, S.T.7
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