-
1
-
-
0001211738
-
Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill Co
-
Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York, NY: McGraw-Hill Co; 1994;2641-2670.
-
(1994)
The Metabolic Basis of Inherited Disease
, pp. 2641-2670
-
-
Beutler, E.1
Grabowski, G.A.2
-
5
-
-
0017754947
-
Juvenile Gaucher's disease with horizontal gaze palsy in three siblings
-
Tripp JH, Lake BD, Young E, Ngu J, Brett EM. Juvenile Gaucher's disease with horizontal gaze palsy in three siblings. J Neurol Neurosurg Psychiatry. 1977;40:470-478.
-
(1977)
J Neurol Neurosurg Psychiatry
, vol.40
, pp. 470-478
-
-
Tripp, J.H.1
Lake, B.D.2
Young, E.3
Ngu, J.4
Brett, E.M.5
-
6
-
-
0028852471
-
Gaucher disease
-
Beutler E. Gaucher disease. Adv Genet. 1995;32:17-49.
-
(1995)
Adv Genet.
, vol.32
, pp. 17-49
-
-
Beutler, E.1
-
7
-
-
0015496948
-
Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase
-
Miyatake T, Suzuki K. Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase. Biochem Biophys Res Commun. 1972;48:538-543.
-
(1972)
Biochem Biophys Res Commun.
, vol.48
, pp. 538-543
-
-
Miyatake, T.1
Suzuki, K.2
-
8
-
-
0031932297
-
Twenty-five years of the "psychosine hypothesis": A personal perspective of its history and present status
-
Suzuki K. Twenty-five years of the "psychosine hypothesis": a personal perspective of its history and present status. Neurochem Res. 1998;23:251-259.
-
(1998)
Neurochem Res.
, vol.23
, pp. 251-259
-
-
Suzuki, K.1
-
9
-
-
0020320060
-
Accumulalion of glucosylcerarnide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
-
Nilsson O, Svennerholm L. Accumulalion of glucosylcerarnide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem. 1982;39:709-718.
-
(1982)
J Neurochem.
, vol.39
, pp. 709-718
-
-
Nilsson, O.1
Svennerholm, L.2
-
10
-
-
0021813371
-
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease
-
Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L. Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease. Clin Genet. 1985;27:443-450.
-
(1985)
Clin Genet.
, vol.27
, pp. 443-450
-
-
Nilsson, O.1
Grabowski, G.A.2
Ludman, M.D.3
Desnick, R.J.4
Svennerholm, L.5
-
11
-
-
0022573318
-
Cerebrosides and psychosine disrupt mitochondrial functions
-
Strasberg P. Cerebrosides and psychosine disrupt mitochondrial functions. Biochem Cell Biol. 1986;64:485-489.
-
(1986)
Biochem Cell Biol.
, vol.64
, pp. 485-489
-
-
Strasberg, P.1
-
13
-
-
0031464734
-
Gaucher's disease: The best laid schemes of mice and men
-
Sidransky E, Ginns EI. Gaucher's disease: the best laid schemes of mice and men. Baillieres Clin Haematol. 1997;10:725-737.
-
(1997)
Baillieres Clin Haematol.
, vol.10
, pp. 725-737
-
-
Sidransky, E.1
Ginns, E.I.2
-
14
-
-
0027948540
-
Enzyme replacement treatment in type 1 and type 3 Gaucher's disease
-
Bembi B, Zanatta M, Carrozzi M, et al. Enzyme replacement treatment in type 1 and type 3 Gaucher's disease. Lancet. 1994;344:1679-1682.
-
(1994)
Lancet
, vol.344
, pp. 1679-1682
-
-
Bembi, B.1
Zanatta, M.2
Carrozzi, M.3
-
15
-
-
0030772366
-
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher disease
-
Schiffmann R, Heyes MP, Aerts JM, et al. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher disease. Ann Neurol. 1997;42:613-621.
-
(1997)
Ann Neurol.
, vol.42
, pp. 613-621
-
-
Schiffmann, R.1
Heyes, M.P.2
Aerts, J.M.3
-
16
-
-
0017413125
-
Reticular reflex myoclonus: A physiological type of human post-hypoxic myoclonus
-
Hallett M, Chadwick D, Adam J, et al. Reticular reflex myoclonus: a physiological type of human post-hypoxic myoclonus. J Neurol Neurosurg Psychiatry. 1977;40:253-264.
-
(1977)
J Neurol Neurosurg Psychiatry
, vol.40
, pp. 253-264
-
-
Hallett, M.1
Chadwick, D.2
Adam, J.3
-
18
-
-
0022568424
-
Evolving ideas on the neurophysiology of myoclonus
-
Fahn S, Marsden CD, Van Woert MH, eds. New York, NY: Raven Press
-
Halliday AM. Evolving ideas on the neurophysiology of myoclonus. In: Fahn S, Marsden CD, Van Woert MH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:339-355.
-
(1986)
Myoclonus: Advances in Neurology
, vol.43
, pp. 339-355
-
-
Halliday, A.M.1
-
19
-
-
0025897365
-
A case of postanoxic encephalopathy with cortical action and brainstem reticular reflex myoclonus
-
Brown P, Thompson PD, Rothwell JC, Day BL, Marsden CD. A case of postanoxic encephalopathy with cortical action and brainstem reticular reflex myoclonus. Mov Disord. 1991;6:139-144.
-
(1991)
Mov Disord.
, vol.6
, pp. 139-144
-
-
Brown, P.1
Thompson, P.D.2
Rothwell, J.C.3
Day, B.L.4
Marsden, C.D.5
-
20
-
-
0022567096
-
Action myoclonus, Ramsay Hunt Syndrome, and other cerebellar myoclonic syndromes
-
Fahn S, Marsden CD, Van Woert MH, eds. New York, NY: Raven Press
-
Lance JW. Action myoclonus, Ramsay Hunt Syndrome, and other cerebellar myoclonic syndromes. In: Fahn S, Marsden CD, Van Woert MH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:33-55
-
(1986)
Myoclonus: Advances in Neurology
, vol.43
, pp. 33-55
-
-
Lance, J.W.1
-
21
-
-
0000320641
-
The syndrome of intention or action myoclonus as a sequel to hypoxic encephalopathy
-
Lance JW, Adams RD. The syndrome of intention or action myoclonus as a sequel to hypoxic encephalopathy. Brain. 1963;86:111-136.
-
(1963)
Brain
, vol.86
, pp. 111-136
-
-
Lance, J.W.1
Adams, R.D.2
-
22
-
-
0018403219
-
Uraemic myoclonus: An example of relicular reflex myoclonus?
-
Chadwick D, French AT. Uraemic myoclonus: an example of relicular reflex myoclonus? J Neurol Neurosurg Psychiatry. 1979;42:52-55.
-
(1979)
J Neurol Neurosurg Psychiatry
, vol.42
, pp. 52-55
-
-
Chadwick, D.1
French, A.T.2
-
24
-
-
0027442703
-
Phenotype/genotype correlations in Gaucher disease type 1: Clinical and therapeutic implications
-
Sibille A, Eng C, Kim S-J, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type 1: clinical and therapeutic implications. Am J Hum Genet. 1993;52:1094-1101.
-
(1993)
Am J Hum Genet.
, vol.52
, pp. 1094-1101
-
-
Sibille, A.1
Eng, C.2
Kim, S.-J.3
Pastores, G.4
Grabowski, G.A.5
-
25
-
-
0025614914
-
The facile detection of the nt 1226 mutation ot glucocerebrosidase by "mismatched" PCR
-
Beutler E, Gelbart T, West C. The facile detection of the nt 1226 mutation ot glucocerebrosidase by "mismatched" PCR. Clin Chim Acta. 1990;194:161-166.
-
(1990)
Clin Chim Acta
, vol.194
, pp. 161-166
-
-
Beutler, E.1
Gelbart, T.2
West, C.3
-
26
-
-
0023131172
-
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
-
Tsuji S, Choudary P, Martin B, et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med. 1987;316:570-575.
-
(1987)
N Engl J Med.
, vol.316
, pp. 570-575
-
-
Tsuji, S.1
Choudary, P.2
Martin, B.3
-
27
-
-
0025831078
-
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
-
Beutler E, Gelbart T, Kuhl W, Sorge J, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci U S A. 1991;88:10544-10547.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 10544-10547
-
-
Beutler, E.1
Gelbart, T.2
Kuhl, W.3
Sorge, J.4
West, C.5
-
28
-
-
0026701193
-
+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid β-glucosidase mRNA
-
+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid β-glucosidase mRNA. Am J Hum Genet. 1992;51:810-820.
-
(1992)
Am J Hum Genet.
, vol.51
, pp. 810-820
-
-
He, G.-S.1
Grabowski, G.A.2
-
29
-
-
0031452699
-
Gaucher's disease: Molecular, genetic and enzymological aspects
-
Grabowski GA, Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. Clin Haematol. 1997;10:635-656.
-
(1997)
Clin Haematol.
, vol.10
, pp. 635-656
-
-
Grabowski, G.A.1
Horowitz, M.2
-
31
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: Structure and evolution
-
Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics. 1989;4:87-96.
-
(1989)
Genomics
, vol.4
, pp. 87-96
-
-
Horowitz, M.1
Wilder, S.2
Horowitz, Z.3
Reiner, O.4
Gelbart, T.5
Beutler, E.6
-
32
-
-
0028157443
-
Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression
-
Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA. Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem. 1994;269:2283-2291.
-
(1994)
J Biol Chem.
, vol.269
, pp. 2283-2291
-
-
Grace, M.E.1
Newman, K.M.2
Scheinker, V.3
Berg-Fussman, A.4
Grabowski, G.A.5
-
33
-
-
0021866403
-
Muteness of cerebellar origin
-
Rekate HL, Grubb RL, Aram DM, Hahn JF, Ratcheson RA. Muteness of cerebellar origin. Arch Neural. 1985;42:697-698.
-
(1985)
Arch Neural.
, vol.42
, pp. 697-698
-
-
Rekate, H.L.1
Grubb, R.L.2
Aram, D.M.3
Hahn, J.F.4
Ratcheson, R.A.5
-
34
-
-
28444468578
-
A type of congenital ocular motor apraxia presenting jerky head movements
-
Cogan DG. A type of congenital ocular motor apraxia presenting jerky head movements. Trans Am Acad Ophthalmol Otolaryngol. 1952;56:853-862.
-
(1952)
Trans Am Acad Ophthalmol Otolaryngol.
, vol.56
, pp. 853-862
-
-
Cogan, D.G.1
-
35
-
-
0013955095
-
Congenital oculomotor apraxia
-
Cogan DG. Congenital oculomotor apraxia. Can J Ophthalmol. 1966;1:253-260.
-
(1966)
Can J Ophthalmol.
, vol.1
, pp. 253-260
-
-
Cogan, D.G.1
-
36
-
-
0028349336
-
Comparison of oculomotor findings in the progressive ataxia syndromes
-
Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain. 1994;117:15-25.
-
(1994)
Brain
, vol.117
, pp. 15-25
-
-
Moschner, C.1
Perlman, S.2
Baloh, R.W.3
-
38
-
-
0342826401
-
Cerebellum
-
Afifi AK, Bergman RA, eds. New York, NY: McGraw-Hill Inc
-
Afifi AK, Bergman RA. Cerebellum. In: Afifi AK, Bergman RA, eds. Functional Neuroanatomy. New York, NY: McGraw-Hill Inc; 1998:306-329.
-
(1998)
Functional Neuroanatomy
, pp. 306-329
-
-
Afifi, A.K.1
Bergman, R.A.2
-
39
-
-
0020508736
-
Non-infantile neuronopathic Gaucher's disease: A clinicopathological study
-
Winkelman MD, Banker BQ, Victor M, Moser HW. Non-infantile neuronopathic Gaucher's disease: a clinicopathological study. Neurology. 1983;33:994-1008.
-
(1983)
Neurology
, vol.33
, pp. 994-1008
-
-
Winkelman, M.D.1
Banker, B.Q.2
Victor, M.3
Moser, H.W.4
-
40
-
-
0025833151
-
Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: Neuropathological and neurochemical findings
-
Conradi N, Kyllerman M, Mansson JE, Percy AK, Svennerholm L. Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings, Acta Neuropathol (Berl). 1991;82:152-157.
-
(1991)
Acta Neuropathol (Berl)
, vol.82
, pp. 152-157
-
-
Conradi, N.1
Kyllerman, M.2
Mansson, J.E.3
Percy, A.K.4
Svennerholm, L.5
-
41
-
-
0029923695
-
Progressive myoclonus epilepsy with focal brain stem degeneration and paternal inheritance: An autopsy report of 4 cases from 2 pedigrees
-
Moss TH, Stevens DL, Campbell MJ. Progressive myoclonus epilepsy with focal brain stem degeneration and paternal inheritance: an autopsy report of 4 cases from 2 pedigrees. Clin Neuropathol. 1996;15:106-112.
-
(1996)
Clin Neuropathol.
, vol.15
, pp. 106-112
-
-
Moss, T.H.1
Stevens, D.L.2
Campbell, M.J.3
-
42
-
-
0018304377
-
Neuropathologic findings in a patient with neuroblastoma and myoclonic encephalopathy
-
Ziter FM, Bray PF, Cancilla PA. Neuropathologic findings in a patient with neuroblastoma and myoclonic encephalopathy. Arch Neurol. 1979;36:51.
-
(1979)
Arch Neurol.
, vol.36
, pp. 51
-
-
Ziter, F.M.1
Bray, P.F.2
Cancilla, P.A.3
-
44
-
-
0019419262
-
Mitochondrial myopathy and lactic acidemia with myoclonic epilepsy, ataxia and hypothalamic infertility: A variant of Ramsay-Hunt syndrome?
-
Fitzsimons RB, Clifton-Bligh P, Wolfenden WH. Mitochondrial myopathy and lactic acidemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome? J Neurol Neurosurg Psychiatry. 1981;44:79-82.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 79-82
-
-
Fitzsimons, R.B.1
Clifton-Bligh, P.2
Wolfenden, W.H.3
-
45
-
-
0017880889
-
The cherry-red spot-myoclonus syndrome
-
Rapin I, Goldfischer S, Katzman R, Engel J Jr, O'Brien JS. The cherry-red spot-myoclonus syndrome, Ann Neurol. 1978;3:234-242.
-
(1978)
Ann Neurol
, vol.3
, pp. 234-242
-
-
Rapin, I.1
Goldfischer, S.2
Katzman, R.3
Engel J., Jr.4
O'Brien, J.S.5
-
46
-
-
0012987456
-
-
Leipzig, Germany: Franz Deuticke
-
Unverricht H. Die Myoclonie. Leipzig, Germany: Franz Deuticke; 1891:1-128.
-
(1891)
Die Myoclonie
, pp. 1-128
-
-
Unverricht, H.1
-
47
-
-
0016138252
-
Progressive myoclonus epilepsy: A clinical and histopathological study
-
Koskiniemi M, Donner M, Majuri H, Halita M, Norio R. Progressive myoclonus epilepsy: a clinical and histopathological study. Acta Neurol Scand. 1974;50:307-332.
-
(1974)
Acta Neurol Scand
, vol.50
, pp. 307-332
-
-
Koskiniemi, M.1
Donner, M.2
Majuri, H.3
Halita, M.4
Norio, R.5
-
48
-
-
51849175000
-
Beitrag zur histopathologie der myoklonischen epilepsie
-
Lafora GR, Glueck B. Beitrag zur histopathologie der myoklonischen Epilepsie. Z Gesamte Neurol Psychiatr. 1911;6:1-14.
-
(1911)
Z Gesamte Neurol Psychiatr.
, vol.6
, pp. 1-14
-
-
Lafora, G.R.1
Glueck, B.2
-
49
-
-
0022589657
-
Myoclonus in neuronal storage and Lafora disease
-
Fahn S, Marsden CD, Van Woert MH, eds. New York, NY: Raven Press
-
Rapin I. Myoclonus in neuronal storage and Lafora disease. In: Fahn S, Marsden CD, Van Woert MH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:65-85.
-
(1986)
Myoclonus: Advances in Neurology
, vol.43
, pp. 65-85
-
-
Rapin, I.1
-
50
-
-
0022595129
-
DDT myoclonus: Site of a myoclonus center in the brain
-
Fahn S, Marsden CD, Van Woert WH, eds. New York, NY: Raven Press
-
Chung E, Van Woert MH. DDT myoclonus: site of a myoclonus center in the brain. In: Fahn S, Marsden CD, Van Woert WH, eds. Myoclonus: Advances in Neurology. Vol 43. New York, NY: Raven Press; 1986:569-575.
-
(1986)
Myoclonus: Advances in Neurology
, vol.43
, pp. 569-575
-
-
Chung, E.1
Van Woert, M.H.2
-
51
-
-
0022837350
-
Gaucher disease-Norrbottnian type (III): Neuropediatric and neurobiological aspects of clinical patterns and treatment
-
Eriksson A. Gaucher disease-Norrbottnian type (III): neuropediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand. 1986;326(suppl):1-41.
-
(1986)
Acta Paediatr Scand.
, vol.326
, Issue.SUPPL.
, pp. 1-41
-
-
Eriksson, A.1
-
52
-
-
0018903154
-
Gaucher disease-Norrbottnian type I: General clinical description
-
Dreborg S, Eriksson A, Hagberg B. Gaucher disease-Norrbottnian type I: general clinical description. Eur J Pediatr. 1980;133:107-118.
-
(1980)
Eur J Pediatr.
, vol.133
, pp. 107-118
-
-
Dreborg, S.1
Eriksson, A.2
Hagberg, B.3
-
53
-
-
0022494415
-
Type 2 and type 3 Gaucher disease: A morphological and biochemical study
-
Kaye EM, Ullman MD, Wilson ER, Sarranger JA. Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann Neurol. 1986;2:223-230.
-
(1986)
Ann Neurol.
, vol.2
, pp. 223-230
-
-
Kaye, E.M.1
Ullman, M.D.2
Wilson, E.R.3
Sarranger, J.A.4
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