-
1
-
-
0001509765
-
Myasthenic syndromes
-
Engel A, Franzini-Armstrong C, eds. New York: McGraw-Hill
-
Engel A. Myasthenic syndromes. In Engel A, Franzini-Armstrong C, eds. Myology. New York: McGraw-Hill, 1994:1798-835
-
(1994)
Myology
, pp. 1798-1835
-
-
Engel, A.1
-
2
-
-
0027325594
-
Clinical and experimental observations in patients with congenital myasthenic syndromes
-
Vincent A, Newsom-Davis J, Wray D, et al. Clinical and experimental observations in patients with congenital myasthenic syndromes. Ann NY Acad Sci 1993;681:451-60
-
(1993)
Ann NY Acad Sci
, vol.681
, pp. 451-460
-
-
Vincent, A.1
Newsom-Davis, J.2
Wray, D.3
-
3
-
-
0019837541
-
Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect
-
Morgan-Hughes JA, Lecky BRF, Landon DN, Murray NMF. Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect Brain 1981;104:279-95
-
(1981)
Brain
, vol.104
, pp. 279-295
-
-
Morgan-Hughes, J.A.1
Lecky, B.R.F.2
Landon, D.N.3
Murray, N.M.F.4
-
5
-
-
0027200547
-
The investigation of congenital myasthenic syndromes
-
Engel AG. The investigation of congenital myasthenic syndromes. Ann NY Acad Sci 1993;681:425-34
-
(1993)
Ann NY Acad Sci
, vol.681
, pp. 425-434
-
-
Engel, A.G.1
-
6
-
-
0026699208
-
Congenital disorders of neuromuscular transmission
-
Kaminski HJ, Ruff RL. Congenital disorders of neuromuscular transmission Hosp Pract 1992;39:73-86
-
(1992)
Hosp Pract
, vol.39
, pp. 73-86
-
-
Kaminski, H.J.1
Ruff, R.L.2
-
7
-
-
0027319949
-
Insights into possible skeletal muscle nicotinic acetylcholine receptor (AChR) changes in some congenital myasthenias from physiological studies, point mutations, subunit substitutions of the AChR
-
Kaminski HJ, Ruff RL. Insights into possible skeletal muscle nicotinic acetylcholine receptor (AChR) changes in some congenital myasthenias from physiological studies, point mutations, subunit substitutions of the AChR. Ann NY Acad Sci 1993;681:435-50
-
(1993)
Ann NY Acad Sci
, vol.681
, pp. 435-450
-
-
Kaminski, H.J.1
Ruff, R.L.2
-
8
-
-
0013602434
-
The Myasthenic syndromes
-
Schultz SG, Andreoli TE, Brown A, et al, eds. New York: Plenum Publishing (in press)
-
Kaminski HJ, Ruff RL. The Myasthenic syndromes. In Schultz SG, Andreoli TE, Brown A, et al, eds. Molecular biology of membrane transport disorders. New York: Plenum Publishing (in press)
-
Molecular Biology of Membrane Transport Disorders
-
-
Kaminski, H.J.1
Ruff, R.L.2
-
9
-
-
0025044119
-
Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release. II.High conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel open time
-
Engel AG, Walls TJ, Nagel A, Uchitel O. Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release. II.High conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel open time. Prog Brain Res 1990;84:125-37
-
(1990)
Prog Brain Res
, vol.84
, pp. 125-137
-
-
Engel, A.G.1
Walls, T.J.2
Nagel, A.3
Uchitel, O.4
-
10
-
-
0018685066
-
Investigations of 3 cases of a newly recognized familial, congenital myasthenic syndrome
-
Engel AG, Lambert EH, Mulder DM, et al. Investigations of 3 cases of a newly recognized familial, congenital myasthenic syndrome. Trans Am Neurol Assoc 1979;104:8-11
-
(1979)
Trans Am Neurol Assoc
, vol.104
, pp. 8-11
-
-
Engel, A.G.1
Lambert, E.H.2
Mulder, D.M.3
-
11
-
-
0023139468
-
Synaptic vesicle abnormality in familial infantile myasthenia
-
Mora M, Lambert EH, Engel AG. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 1987;37:206-14
-
(1987)
Neurology
, vol.37
, pp. 206-214
-
-
Mora, M.1
Lambert, E.H.2
Engel, A.G.3
-
13
-
-
0027291507
-
The spectrum of congenital end-plate acetylcholinesterase deficiency
-
Hutchinson DO, Engel AG, Walls TJ, et al. The spectrum of congenital end-plate acetylcholinesterase deficiency. Ann NY Acad Sci 1993;681:469-86
-
(1993)
Ann NY Acad Sci
, vol.681
, pp. 469-486
-
-
Hutchinson, D.O.1
Engel, A.G.2
Walls, T.J.3
-
14
-
-
0023881661
-
A myasthenic syndrome with congenital paucity of secondary synaptic clefts: CPSC syndrome
-
Smit LME, Hageman G, Veldman H, et al. A myasthenic syndrome with congenital paucity of secondary synaptic clefts: CPSC syndrome. Muscle Nerve 1988;11:337-48
-
(1988)
Muscle Nerve
, vol.11
, pp. 337-348
-
-
Smit, L.M.E.1
Hageman, G.2
Veldman, H.3
-
15
-
-
0024502273
-
Congenital paucity of secondary synaptic clefts (CPSC) syndrome in adult sibs
-
Wokke JHJ, Jennekens FGI. Molenaar PC, et al. Congenital paucity of secondary synaptic clefts (CPSC) syndrome in adult sibs. Neurology 1989;39:648-54
-
(1989)
Neurology
, vol.39
, pp. 648-654
-
-
Wokke, J.H.J.1
Jennekens, F.G.I.2
Molenaar, P.C.3
-
16
-
-
0027234020
-
Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor
-
Engel AG, Hutchinson DO, Nakano S, et al. Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor. Ann NY Acad Sci 1993;681:496-508
-
(1993)
Ann NY Acad Sci
, vol.681
, pp. 496-508
-
-
Engel, A.G.1
Hutchinson, D.O.2
Nakano, S.3
-
17
-
-
0025094484
-
Why are eye muscles frequently involved by myasthenia gravis?
-
Kaminski HJ, Maas E, Spiegel P, Ruff RL. Why are eye muscles frequently involved by myasthenia gravis? Neurology 1990;40:1663-9
-
(1990)
Neurology
, vol.40
, pp. 1663-1669
-
-
Kaminski, H.J.1
Maas, E.2
Spiegel, P.3
Ruff, R.L.4
-
18
-
-
0027184572
-
Ephedrine: Effects on neuromuscular transmission
-
Sieb J, Engel A. Ephedrine: effects on neuromuscular transmission. Brain Res 1993;623:167-71
-
(1993)
Brain Res
, vol.623
, pp. 167-171
-
-
Sieb, J.1
Engel, A.2
-
19
-
-
0017461639
-
The adult form of acid maltase (α-1,4-glucosidase) deficiency
-
Karpati G, Carpenter S, Eisen A. The adult form of acid maltase (α-1,4-glucosidase) deficiency. Ann Neurol 1977;1:276-80
-
(1977)
Ann Neurol
, vol.1
, pp. 276-280
-
-
Karpati, G.1
Carpenter, S.2
Eisen, A.3
-
20
-
-
0014332199
-
Adult myopathy from glycogen storage disease due to acid maltase deficiency
-
Hudgson P, Gardner-Medwin D, Worsfold M. Adult myopathy from glycogen storage disease due to acid maltase deficiency. Brain 1968;91:435-62
-
(1968)
Brain
, vol.91
, pp. 435-462
-
-
Hudgson, P.1
Gardner-Medwin, D.2
Worsfold, M.3
-
21
-
-
0015538410
-
The spectrum and diagnosis of acid maltase deficiency
-
Engel A, Gomez M, Seybold ME. The spectrum and diagnosis of acid maltase deficiency. Neurology 1973;23:95-106
-
(1973)
Neurology
, vol.23
, pp. 95-106
-
-
Engel, A.1
Gomez, M.2
Seybold, M.E.3
-
22
-
-
0014094248
-
Muscular form of glycogenosis. type II (Pompe)
-
Smith J, Zellweger H, Afifi A. Muscular form of glycogenosis. type II (Pompe). Neurology 1967;17:537-49
-
(1967)
Neurology
, vol.17
, pp. 537-549
-
-
Smith, J.1
Zellweger, H.2
Afifi, A.3
-
23
-
-
0014774632
-
Acid maltase deficiency: Comparison of infantile, childhood, and adult types
-
Engel A, Seybold M, Lambert E. Acid maltase deficiency: comparison of infantile, childhood, and adult types. Neurology 1970;20:382
-
(1970)
Neurology
, vol.20
, pp. 382
-
-
Engel, A.1
Seybold, M.2
Lambert, E.3
-
24
-
-
0001448360
-
Glycogen storage disease type II: Acid α-glucosidase (acid maltase) deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Hirschhorn R. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases, 7th ed. New York: McGraw-Hill, 1995:2443-64
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases, 7th Ed.
, pp. 2443-2464
-
-
Hirschhorn, R.1
-
25
-
-
0001216507
-
Acid maltase deficiency
-
Engel AG, Franzini-Armstrong C, eds. New York-McGraw-Hill
-
Engel A, Hirschhorn R. Acid maltase deficiency. In Engel AG, Franzini-Armstrong C, eds. Myology, 2nd ed. New York-McGraw-Hill, 1994:1533-53
-
(1994)
Myology, 2nd Ed.
, pp. 1533-1553
-
-
Engel, A.1
Hirschhorn, R.2
-
26
-
-
2242482734
-
Infantile and adult-onset acid maltase deficiency occurring in the same family
-
Busch H, Koster J, Weerden T. Infantile and adult-onset acid maltase deficiency occurring in the same family. Neurology 1979;31:1209-16
-
(1979)
Neurology
, vol.31
, pp. 1209-1216
-
-
Busch, H.1
Koster, J.2
Weerden, T.3
-
27
-
-
0019492731
-
A family with different clinical forms of acid maltase deficiency (glycogenosis type II)
-
Loonen M, Busch H, Koster J. A family with different clinical forms of acid maltase deficiency (glycogenosis type II). Neurology 1981;31:1209-16
-
(1981)
Neurology
, vol.31
, pp. 1209-1216
-
-
Loonen, M.1
Busch, H.2
Koster, J.3
-
28
-
-
0014728926
-
Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies
-
Engel A. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 1970;93:599-616
-
(1970)
Brain
, vol.93
, pp. 599-616
-
-
Engel, A.1
-
29
-
-
0022515554
-
Case records of the Massachusetts General Hospital
-
Scully R, Mark E, McNeeley B. Case records of the Massachusetts General Hospital. N Engl J Med 1986;315:694-701
-
(1986)
N Engl J Med
, vol.315
, pp. 694-701
-
-
Scully, R.1
Mark, E.2
McNeeley, B.3
-
30
-
-
0022378966
-
Acid maltase deficiency in adults: Diagnosis and management in five cases
-
Trend P, Wiles C, Spencer G. Acid maltase deficiency in adults: diagnosis and management in five cases. Brain 1985;108:845-60
-
(1985)
Brain
, vol.108
, pp. 845-860
-
-
Trend, P.1
Wiles, C.2
Spencer, G.3
-
31
-
-
0028278807
-
Obstructive sleep apnea syndrome in acid maltase deficiency
-
Margolis M, Howlett P, Goldberg R. Obstructive sleep apnea syndrome in acid maltase deficiency. Chest 1994;105:947-9
-
(1994)
Chest
, vol.105
, pp. 947-949
-
-
Margolis, M.1
Howlett, P.2
Goldberg, R.3
-
32
-
-
0019480373
-
Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis
-
Sivak E, Salanga V, Wilbourn A. Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis. Ann Neurol 1981;9:13-5
-
(1981)
Ann Neurol
, vol.9
, pp. 13-15
-
-
Sivak, E.1
Salanga, V.2
Wilbourn, A.3
-
33
-
-
0022446103
-
Acid maltase deficiency: A case study and review of the pathophysiological changes and proposed therapeutic measures
-
Isaacs H, Savage N, Badenhorst M. Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures. J Neurol Neurosurg Psychiatry 1986;49:1011-8
-
(1986)
J Neurol Neurosurg Psychiatry
, vol.49
, pp. 1011-1018
-
-
Isaacs, H.1
Savage, N.2
Badenhorst, M.3
-
35
-
-
0027300620
-
Respiratory insufficiency in adult-type acid maltase deficiency
-
Moufarrej N, Bertorini T. Respiratory insufficiency in adult-type acid maltase deficiency. South Med J 1993;86:560-7
-
(1993)
South Med J
, vol.86
, pp. 560-567
-
-
Moufarrej, N.1
Bertorini, T.2
-
36
-
-
0023876940
-
α-Glucosidase isoenzymes in normal and acid maltase-deficient skeletal muscles
-
Usuki F, Ishihiura S, Nonaka I. α-Glucosidase isoenzymes in normal and acid maltase-deficient skeletal muscles. Muscle Nerve 1988;11:365-71
-
(1988)
Muscle Nerve
, vol.11
, pp. 365-371
-
-
Usuki, F.1
Ishihiura, S.2
Nonaka, I.3
-
37
-
-
0024604820
-
Lymphocyte α-glucosidase in late-onset glycogenosis type II
-
Kuriyama M, Kohriyama T, Iwamasa T Lymphocyte α-glucosidase in late-onset glycogenosis type II. Arch Neurol 1989;46:460-2
-
(1989)
Arch Neurol
, vol.46
, pp. 460-462
-
-
Kuriyama, M.1
Kohriyama, T.2
Iwamasa, T.3
-
38
-
-
0020549634
-
Respiratory improvement by muscle training in adult-onset acid maltase deficiency
-
Martin R, Sufit R, Ringel S. Respiratory improvement by muscle training in adult-onset acid maltase deficiency. Muscle Nerve 1983;6:201-3
-
(1983)
Muscle Nerve
, vol.6
, pp. 201-203
-
-
Martin, R.1
Sufit, R.2
Ringel, S.3
-
39
-
-
0002815058
-
Myoadenylate deaminase deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Sabina R, Holmes E. Myoadenylate deaminase deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases, 7th ed. New York: McGraw-Hill 1995:1769-80
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases, 7th Ed.
, pp. 1769-1780
-
-
Sabina, R.1
Holmes, E.2
-
41
-
-
0021352656
-
Levels of adenylate deaminase, adenylate kinase and creatine kinase in frozen human muscle biopsy specimens relative to type 1/type 2 fiber distribution: Evidence for a carrier state of myoadenylate deaminase deficiency
-
Fishbein W, Armbrustmacher V, Griffin J. Levels of adenylate deaminase, adenylate kinase and creatine kinase in frozen human muscle biopsy specimens relative to type 1/type 2 fiber distribution: evidence for a carrier state of myoadenylate deaminase deficiency. Ann Neurol 1984;15:271-7
-
(1984)
Ann Neurol
, vol.15
, pp. 271-277
-
-
Fishbein, W.1
Armbrustmacher, V.2
Griffin, J.3
-
42
-
-
0019524236
-
Muscle adenylate deaminase deficiency: Report of six new cases
-
Kar N, Pearson C. Muscle adenylate deaminase deficiency: report of six new cases. Arch Neurol 1981;38:279-81
-
(1981)
Arch Neurol
, vol.38
, pp. 279-281
-
-
Kar, N.1
Pearson, C.2
-
43
-
-
0000625751
-
Muscle pain, cramps, and fatigue
-
Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
-
Layzer R. Muscle pain, cramps, and fatigue. In Engel AG, Franzini-Armstrong C, eds. Myology basic and clinical, 2nd ed. New York: McGraw-Hill 1994:1754-68
-
(1994)
Myology Basic and Clinical, 2nd Ed.
, pp. 1754-1768
-
-
Layzer, R.1
-
44
-
-
0023189157
-
McArdle's disease with myoadenylate deficiency: Observations in a combined enzyme deficiency
-
Heller S, Kaiser K, Planer G. McArdle's disease with myoadenylate deficiency: observations in a combined enzyme deficiency. Neurology 1987;37:1039-42
-
(1987)
Neurology
, vol.37
, pp. 1039-1042
-
-
Heller, S.1
Kaiser, K.2
Planer, G.3
-
46
-
-
0026542526
-
Molecular analysis of the myoadenylate deaminase deficiencies
-
Sabina R, Fishbein W, Pezeshkpour G. Molecular analysis of the myoadenylate deaminase deficiencies. Neurology 1992;42:170-9
-
(1992)
Neurology
, vol.42
, pp. 170-179
-
-
Sabina, R.1
Fishbein, W.2
Pezeshkpour, G.3
-
47
-
-
0018938383
-
Myoadenylate deaminase deficiency: Muscle biopsy and muscle culture in a patient with gout
-
DiMauro S, Miranda A, Hays A. Myoadenylate deaminase deficiency: muscle biopsy and muscle culture in a patient with gout. J Neurol Sci 1980;47:191-202
-
(1980)
J Neurol Sci
, vol.47
, pp. 191-202
-
-
DiMauro, S.1
Miranda, A.2
Hays, A.3
-
48
-
-
0020047975
-
Familial myoadenylate deaminase deficiency and exertional myalgia
-
Keleman J, Rice D, Bradley W. Familial myoadenylate deaminase deficiency and exertional myalgia. Neurology 1982;32:857-63
-
(1982)
Neurology
, vol.32
, pp. 857-863
-
-
Keleman, J.1
Rice, D.2
Bradley, W.3
-
49
-
-
0023884432
-
Myoadenylate deaminase deficiency: A clinical, genetic, and biochemical study in nine families
-
Sinkeler S, Joosten E, Wevers R. Myoadenylate deaminase deficiency: a clinical, genetic, and biochemical study in nine families. Muscle Nerve 1988;11:312-7
-
(1988)
Muscle Nerve
, vol.11
, pp. 312-317
-
-
Sinkeler, S.1
Joosten, E.2
Wevers, R.3
-
50
-
-
2242417460
-
Exercising muscle does not produce hypoxanthine in adenylate deaminase deficiency
-
Patterson V, Kaiser K, Brooke M. Exercising muscle does not produce hypoxanthine in adenylate deaminase deficiency. Neurology 1983;12:158-9
-
(1983)
Neurology
, vol.12
, pp. 158-159
-
-
Patterson, V.1
Kaiser, K.2
Brooke, M.3
-
51
-
-
2242490990
-
Specific myopathies
-
Griggs RC, Mendell JR, Miller RG, eds. Philadelphia: FA Davis
-
Griggs R, Mendell J, Miller R. Specific myopathies. In Griggs RC, Mendell JR, Miller RG, eds. Evaluation and treatment of myopathies. Philadelphia: FA Davis, 1995:274-6
-
(1995)
Evaluation and Treatment of Myopathies
, pp. 274-276
-
-
Griggs, R.1
Mendell, J.2
Miller, R.3
-
52
-
-
0020032741
-
Beneficial effect of D-ribose in a patient with myoadenylate deaminase deficiency
-
Patten B. Beneficial effect of D-ribose in a patient with myoadenylate deaminase deficiency. Lancet 1982;1:1071
-
(1982)
Lancet
, vol.1
, pp. 1071
-
-
Patten, B.1
-
53
-
-
0024617161
-
Myoadenylate deaminase deficiency: Fact and fancy
-
Fishbein W. Myoadenylate deaminase deficiency: fact and fancy. Muscle Nerve 1989;12:158-9
-
(1989)
Muscle Nerve
, vol.12
, pp. 158-159
-
-
Fishbein, W.1
-
54
-
-
2242482988
-
A reply: Medical reasoning in myoadenylate deaminase deficiency
-
Sinkeler S. A reply: medical reasoning in myoadenylate deaminase deficiency. Muscle Nerve 1989;12:159
-
(1989)
Muscle Nerve
, vol.12
, pp. 159
-
-
Sinkeler, S.1
-
55
-
-
0016693399
-
A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita Thomsen
-
Torbergsen T. A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita Thomsen. Acta Neurol Scand 1975;51:225-32
-
(1975)
Acta Neurol Scand
, vol.51
, pp. 225-232
-
-
Torbergsen, T.1
-
57
-
-
0028116684
-
A rippling muscle disease gene is localized to 1q41: Evidence for multiple genes
-
Stephan D, Buist N, Chittenden A, Ricker K, Zhou J, Hoffman E. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology 1994;44:1951-20
-
(1994)
Neurology
, vol.44
, pp. 1951-2020
-
-
Stephan, D.1
Buist, N.2
Chittenden, A.3
Ricker, K.4
Zhou, J.5
Hoffman, E.6
-
58
-
-
0030063739
-
Thymoma and myasthenia gravis with rippling muscles
-
Ansevin C, Agamanolis D. Thymoma and myasthenia gravis with rippling muscles. Arch Neurol 1996;53:197-9
-
(1996)
Arch Neurol
, vol.53
, pp. 197-199
-
-
Ansevin, C.1
Agamanolis, D.2
-
61
-
-
0028225586
-
Ryanodine receptor antibodies related to severity of thymoma-associated myasthenia gravis
-
Mygland A, Aarli J, Matre R, Gilhus N. Ryanodine receptor antibodies related to severity of thymoma-associated myasthenia gravis. J Neurol Neurosurg Psychiatry 1994;57:843-6
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 843-846
-
-
Mygland, A.1
Aarli, J.2
Matre, R.3
Gilhus, N.4
|