-
1
-
-
84886641891
-
Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocythosis. Part 2. Abnormal degradation of membrane proteins
-
Asano K, Osawa Y, Yanagisawa N, Takahashi Y, Oshima M. Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocythosis. Part 2. Abnormal degradation of membrane proteins. J Neurol Sci 1985;68:161-173.
-
(1985)
J Neurol Sci
, vol.68
, pp. 161-173
-
-
Asano, K.1
Osawa, Y.2
Yanagisawa, N.3
Takahashi, Y.4
Oshima, M.5
-
2
-
-
0001633609
-
General approaches to neuromuscular diseases
-
Engel AG, Franzini-Armstrong C, editors. New York: McGraw-Hill
-
Banker BQ, Engel AG. General approaches to neuromuscular diseases. In: Engel AG, Franzini-Armstrong C, editors. Myology, 2nd ed. New York: McGraw-Hill; 1994. p 832-888.
-
(1994)
Myology, 2nd Ed.
, pp. 832-888
-
-
Banker, B.Q.1
Engel, A.G.2
-
3
-
-
0018899845
-
Nemaline rod myopathy and Charcot-Marie-Tooth disease. Report of a case in a 10-year-old girl
-
Danon MJ, Sarpel G, Manaligod JR. Nemaline rod myopathy and Charcot-Marie-Tooth disease. Report of a case in a 10-year-old girl. Arch Neurol 1980;37:123-127.
-
(1980)
Arch Neurol
, vol.37
, pp. 123-127
-
-
Danon, M.J.1
Sarpel, G.2
Manaligod, J.R.3
-
4
-
-
0026073577
-
Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
-
Hardie RJ, Pullon HW, Harding AE, Owen JS, Pires M, Daniels GL, et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 1991;114:13-49.
-
(1991)
Brain
, vol.114
, pp. 13-49
-
-
Hardie, R.J.1
Pullon, H.W.2
Harding, A.E.3
Owen, J.S.4
Pires, M.5
Daniels, G.L.6
-
5
-
-
0021321807
-
Computed tomographic patterns of muscles in neuromuscular diseases
-
Hawley RJ Jr, Schellinger D, O'Doherty DS. Computed tomographic patterns of muscles in neuromuscular diseases. Arch Neurol 1984;41:383-387.
-
(1984)
Arch Neurol
, vol.41
, pp. 383-387
-
-
Hawley Jr., R.J.1
Schellinger, D.2
O'Doherty, D.S.3
-
6
-
-
0033932694
-
Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis
-
Ishikawa S, Tachibana N, Tabata KI, Fujimori N, Hayashi RI, Takahashi J, et al. Muscle CT scan findings in McLeod syndrome and chorea-acanthocytosis. Muscle Nerve 2000;23: 1113-1116.
-
(2000)
Muscle Nerve
, vol.23
, pp. 1113-1116
-
-
Ishikawa, S.1
Tachibana, N.2
Tabata, K.I.3
Fujimori, N.4
Hayashi, R.I.5
Takahashi, J.6
-
7
-
-
0020068656
-
"Myopathic" changes in chorea-acanthocytosis. Clinical and histopathological studies
-
Limos LC, Ohnishi A, Sakai T, Fujii N, Goto I, Kuroiwa Y. "Myopathic" changes in chorea-acanthocytosis. Clinical and histopathological studies. J Neurol Sci 1982;55:49-58.
-
(1982)
J Neurol Sci
, vol.55
, pp. 49-58
-
-
Limos, L.C.1
Ohnishi, A.2
Sakai, T.3
Fujii, N.4
Goto, I.5
Kuroiwa, Y.6
-
8
-
-
0036792882
-
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients
-
Melone MA, Di Fede G, Peluso G, Lus G, Di Iorio G, Sampaolo S, et al. Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients. J Neuropathol Exp Neurol 2002;61:841-848.
-
(2002)
J Neuropathol Exp Neurol
, vol.61
, pp. 841-848
-
-
Melone, M.A.1
Di Fede, G.2
Peluso, G.3
Lus, G.4
Di Iorio, G.5
Sampaolo, S.6
-
9
-
-
0034326318
-
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor
-
Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet 2000;9:2599-2608.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2599-2608
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
Nivoche, Y.4
Qi, D.5
MacLennan, D.H.6
-
10
-
-
0019409326
-
Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis
-
Ohnishi A, Sato Y, Nagara H, Sakai T, Iwashita H, Kuroiwa Y, et al. Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis. J Neurol Neurosurg Psychiatry 1981;44:645-648.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 645-648
-
-
Ohnishi, A.1
Sato, Y.2
Nagara, H.3
Sakai, T.4
Iwashita, H.5
Kuroiwa, Y.6
-
11
-
-
0031441271
-
Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis
-
Olivieri O, De Franceschi L, Bordin L, Manfredi M, Miraglia del Giudice E, Perrotta S, et al. Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis. Haematologica 1997;82:648-653.
-
(1997)
Haematologica
, vol.82
, pp. 648-653
-
-
Olivieri, O.1
De Franceschi, L.2
Bordin, L.3
Manfredi, M.4
Miraglia Del Giudice, E.5
Perrotta, S.6
-
12
-
-
0021837782
-
Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocytosis. Part 1. Spin labeling studies and lipid analyses
-
Oshima M, Osawa Y, Asano K, Saito T. Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocytosis. Part 1. Spin labeling studies and lipid analyses. J Neurol Sci 1985;68:147-160.
-
(1985)
J Neurol Sci
, vol.68
, pp. 147-160
-
-
Oshima, M.1
Osawa, Y.2
Asano, K.3
Saito, T.4
-
13
-
-
15344339539
-
Target fibers: Structural and cytochemical characteristics and their relationship to neurogenic muscle disease and fiber types
-
Milhorat A, editor. Amsterdam: Excerpta Medica
-
Rensnick JS, Engel WK. Target fibers: structural and cytochemical characteristics and their relationship to neurogenic muscle disease and fiber types. In: Milhorat A, editor. Exploratory concepts in muscular dystrophy and related disorders. Amsterdam: Excerpta Medica; 1967. p 255-267.
-
(1967)
Exploratory Concepts in Muscular Dystrophy and Related Disorders
, pp. 255-267
-
-
Rensnick, J.S.1
Engel, W.K.2
-
14
-
-
0025730977
-
Chorea-acanthocytosis: Abnormal composition of covalently bound fatty acids of erythrocyte membrane proteins
-
Sakai T, Antoku Y, Iwashita H, Goto I, Nagamatsu K, Shii H. Chorea-acanthocytosis: abnormal composition of covalently bound fatty acids of erythrocyte membrane proteins. Ann Neurol 1991;29:664-669.
-
(1991)
Ann Neurol
, vol.29
, pp. 664-669
-
-
Sakai, T.1
Antoku, Y.2
Iwashita, H.3
Goto, I.4
Nagamatsu, K.5
Shii, H.6
-
15
-
-
0034642231
-
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy
-
Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000;55:1689-1696.
-
(2000)
Neurology
, vol.55
, pp. 1689-1696
-
-
Scacheri, P.C.1
Hoffman, E.P.2
Fratkin, J.D.3
Semino-Mora, C.4
Senchak, A.5
Davis, M.R.6
-
16
-
-
0014498126
-
An electron microscopic study of target fibers, target-like fibers and related abnormalities in human muscle
-
Schotland DL. An electron microscopic study of target fibers, target-like fibers and related abnormalities in human muscle. J Neuropathol Exp Neurol 1969;28:214-228.
-
(1969)
J Neuropathol Exp Neurol
, vol.28
, pp. 214-228
-
-
Schotland, D.L.1
-
17
-
-
0035084427
-
Acanthocytosis and neurological disorders
-
Stevenson VL, Hardie RJ. Acanthocytosis and neurological disorders. J Neurol 2001;248:87-94.
-
(2001)
J Neurol
, vol.248
, pp. 87-94
-
-
Stevenson, V.L.1
Hardie, R.J.2
-
18
-
-
0033036874
-
Ultrastructural changes of erythrocyte membrane skeletons in chorea-acanthocytosis and McLeod syndrome revealed by the quick-freezing and deep-etching method
-
Terada N, Fujii Y, Ueda H, Kato Y, Baba T, Hayashi R, et al. Ultrastructural changes of erythrocyte membrane skeletons in chorea-acanthocytosis and McLeod syndrome revealed by the quick-freezing and deep-etching method. Acta Haematol 1999;101:25-31.
-
(1999)
Acta Haematol
, vol.101
, pp. 25-31
-
-
Terada, N.1
Fujii, Y.2
Ueda, H.3
Kato, Y.4
Baba, T.5
Hayashi, R.6
-
19
-
-
0019904751
-
Morphological abnormalities of erythrocyte membrane in the hereditary neurological disease with chorea, areflexia and acanthocytosis
-
Ueno E, Oguchi K, Yanagisawa N. Morphological abnormalities of erythrocyte membrane in the hereditary neurological disease with chorea, areflexia and acanthocytosis. J Neurol Sci 1982;56:89-97.
-
(1982)
J Neurol Sci
, vol.56
, pp. 89-97
-
-
Ueno, E.1
Oguchi, K.2
Yanagisawa, N.3
-
20
-
-
0024455324
-
Peripheral neuropathy in amyotrophic chorea-acanthocytosis
-
Vita G, Serra S, Dattola R, Santoro M, Toscano A, Venuto C, et al. Peripheral neuropathy in amyotrophic chorea-acanthocytosis. Ann Neurol 1989;26:583-587.
-
(1989)
Ann Neurol
, vol.26
, pp. 583-587
-
-
Vita, G.1
Serra, S.2
Dattola, R.3
Santoro, M.4
Toscano, A.5
Venuto, C.6
|