-
1
-
-
0027444631
-
The role of neurogenetics in Gaucher disease
-
1:STN:280:DyaK2c%2FivFKmsQ%3D%3D 8215980
-
RO Brady NW Barton GA Grabowski 1993 The role of neurogenetics in Gaucher disease Arch Neurol 50 11 1212 1224 1:STN:280:DyaK2c%2FivFKmsQ%3D%3D 8215980
-
(1993)
Arch Neurol
, vol.50
, Issue.11
, pp. 1212-1224
-
-
Brady, R.O.1
Barton, N.W.2
Grabowski, G.A.3
-
2
-
-
0026332945
-
Neurologic complications of non-neuronopathic Gaucher's disease
-
1:STN:280:DyaK3s3mtlygsw%3D%3D 1845033
-
RP Grewal SH Doppelt MA Thompson, et al. 1991 Neurologic complications of non-neuronopathic Gaucher's disease Arch Neurol 48 12 1271 1272 1:STN:280:DyaK3s3mtlygsw%3D%3D 1845033
-
(1991)
Arch Neurol
, vol.48
, Issue.12
, pp. 1271-1272
-
-
Grewal, R.P.1
Doppelt, S.H.2
Thompson, M.A.3
-
3
-
-
47649084452
-
Manifestaciones neurológicas en pacientes con enfermedad de Gaucher y en sus familiares
-
DOI 10.1157/13124962
-
P Giraldo JL Capablo P Alfonso, et al. 2008 Neurological manifestations in patients with Gaucher disease and in their relatives Med Clin (Barc) 131 5 175 179 10.1157/13124962 (Pubitemid 352018930)
-
(2008)
Medicina Clinica
, vol.131
, Issue.5
, pp. 175-179
-
-
Giraldo, P.1
Capablo, J.L.2
Alfonso, P.3
Latre, P.4
Garcia, B.5
Pocovi, M.6
-
4
-
-
69949134511
-
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
-
10.1002/mds.22538 19425057
-
J DePaolo O Goker-Alpan T Samaddar, et al. 2009 The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism Mov Disord 24 11 1571 1578 10.1002/mds.22538 19425057
-
(2009)
Mov Disord
, vol.24
, Issue.11
, pp. 1571-1578
-
-
Depaolo, J.1
Goker-Alpan, O.2
Samaddar, T.3
-
5
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
DOI 10.1136/jmg.2004.024455
-
O Goker-Alpan R Schiffmann ME LaMarca, et al. 2004 Parkinsonism among Gaucher disease carriers J Med Genet 41 12 937 940 1:STN:280: DC%2BD2cnhvVWhsA%3D%3D 10.1136/jmg.2004.024455 15591280 (Pubitemid 40007255)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.12
, pp. 937-940
-
-
Goker-Alpan, O.1
Schiffmann, R.2
LaMarca, M.E.3
Nussbaum, R.L.4
McInerney-Leo, A.5
Sidransky, E.6
-
6
-
-
0033951675
-
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
-
DOI 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S
-
DL Stone N Tayebi E Orvisky, et al. 2000 Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease Hum Mutat 15 2 181 188 1:CAS:528:DC%2BD3cXhsF2ksbo%3D 10.1002/(SICI)1098-1004(200002)15:2<181::AID- HUMU7>3.0.CO;2-S 10649495 (Pubitemid 30078409)
-
(2000)
Human Mutation
, vol.15
, Issue.2
, pp. 181-188
-
-
Stone, D.L.1
Tayebi, N.2
Orvisky, E.3
Stubblefield, B.4
Madike, V.5
Sidransky, E.6
-
7
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
DOI 10.1002/humu.20676
-
KS Hruska ME LaMarca CR Scott, et al. 2008 Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) Hum Mutat 29 5 567 583 1:CAS:528:DC%2BD1cXmsVOgu74%3D 10.1002/humu.20676 18338393 (Pubitemid 351614580)
-
(2008)
Human Mutation
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruska, K.S.1
LaMarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
8
-
-
0346218248
-
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: A model system for assessing neuronal damage in Gaucher disease type 2 and 3
-
DOI 10.1016/j.nbd.2003.08.016
-
UH Schueler T Kolter CR Kaneski, et al. 2003 Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3 Neurobiol Dis 14 3 595 601 1:CAS:528:DC%2BD3sXpvVWktro%3D 10.1016/j.nbd.2003.08.016 14678774 (Pubitemid 37543536)
-
(2003)
Neurobiology of Disease
, vol.14
, Issue.3
, pp. 595-601
-
-
Schueler, U.H.1
Kolter, T.2
Kaneski, C.R.3
Blusztajn, J.K.4
Herkenham, M.5
Sandhoff, K.6
Brady, R.O.7
-
9
-
-
11844278539
-
Enhanced calcium release in the acute neuronopathic form of Gaucher disease
-
DOI 10.1016/j.nbd.2004.09.004, PII S0969996104002219
-
D Pelled S Trajkovic-Bodennec E Lloyd-Evans, et al. 2005 Enhanced calcium release in the acute neuronopathic form of Gaucher disease Neurobiol Dis 18 1 83 88 1:CAS:528:DC%2BD2MXkslOhug%3D%3D 10.1016/j.nbd.2004.09.004 15649698 (Pubitemid 40092898)
-
(2005)
Neurobiology of Disease
, vol.18
, Issue.1
, pp. 83-88
-
-
Pelled, D.1
Trajkovic-Bodennec, S.2
Lloyd-Evans, E.3
Sidransky, E.4
Schiffmann, R.5
Futerman, A.H.6
-
10
-
-
3242703423
-
Neuropathology provides clues to the pathophysiology of Gaucher disease
-
DOI 10.1016/j.ymgme.2004.04.011, PII S1096719204001179
-
K Wong E Sidransky A Verma, et al. 2004 Neuropathology provides clues to the pathophysiology of Gaucher disease Mol Genet Metab 82 3 192 207 1:CAS:528:DC%2BD2cXlsVSgu74%3D 10.1016/j.ymgme.2004.04.011 15234332 (Pubitemid 38952652)
-
(2004)
Molecular Genetics and Metabolism
, vol.82
, Issue.3
, pp. 192-207
-
-
Wong, K.1
Sidransky, E.2
Verma, A.3
Mixon, T.4
Sandberg, G.D.5
Wakefield, L.K.6
Morrison, A.7
Lwin, A.8
Colegial, C.9
Allman, J.M.10
Schiffmann, R.11
-
11
-
-
36849057499
-
Murine models of acute neuronopathic Gaucher disease
-
DOI 10.1073/pnas.0708086104
-
IB Enquist C Lo Bianco A Ooka, et al. 2007 Murine models of acute neuronopathic Gaucher disease Proc Natl Acad Sci USA 104 44 17483 17488 1:CAS:528:DC%2BD2sXht1ymtrfN 10.1073/pnas.0708086104 17954912 (Pubitemid 350219864)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.44
, pp. 17483-17488
-
-
Enquist, I.B.1
Bianco, C.L.2
Ooka, A.3
Nilsson, E.4
Mansson, J.-E.5
Ehinger, M.6
Richter, J.7
Brady, R.O.8
Kirik, D.9
Karlsson, S.10
-
12
-
-
77950675049
-
Neuronopathic Gaucher disease in the mouse: Viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
-
1:CAS:528:DC%2BC3cXivV2jtL0%3D 10.1093/hmg/ddp580 20047948
-
Y Sun B Liou H Ran, et al. 2010 Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits Hum Mol Genet 19 6 1088 1097 1:CAS:528:DC%2BC3cXivV2jtL0%3D 10.1093/hmg/ddp580 20047948
-
(2010)
Hum Mol Genet
, vol.19
, Issue.6
, pp. 1088-1097
-
-
Sun, Y.1
Liou, B.2
Ran, H.3
-
13
-
-
77958185918
-
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
-
1:CAS:528:DC%2BC3cXhtVahsLnE 10.1093/hmg/ddq204 20484222
-
AM Vaccaro M Motta M Tatti, et al. 2010 Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting Hum Mol Genet 19 15 2987 2997 1:CAS:528:DC%2BC3cXhtVahsLnE 10.1093/hmg/ddq204 20484222
-
(2010)
Hum Mol Genet
, vol.19
, Issue.15
, pp. 2987-2997
-
-
Vaccaro, A.M.1
Motta, M.2
Tatti, M.3
-
14
-
-
77950360086
-
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta- glucocerebrosidase
-
1:CAS:528:DC%2BC3cXmsl2qtA%3D%3D 10.1093/hmg/ddp523 19933215
-
J Blanz J Groth C Zachos, et al. 2010 Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase Hum Mol Genet 19 4 563 572 1:CAS:528:DC%2BC3cXmsl2qtA%3D%3D 10.1093/hmg/ddp523 19933215
-
(2010)
Hum Mol Genet
, vol.19
, Issue.4
, pp. 563-572
-
-
Blanz, J.1
Groth, J.2
Zachos, C.3
-
15
-
-
77956064508
-
Neuronopathic Gaucher disease: Demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
-
10.1007/s10545-009-9009-6 20084461
-
A Tylki-Szymańska A Vellodi A El-Beshlawy, et al. 2010 Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry J Inherit Metab Dis 33 4 339 346 10.1007/s10545-009-9009-6 20084461
-
(2010)
J Inherit Metab Dis
, vol.33
, Issue.4
, pp. 339-346
-
-
Tylki-Szymańska, A.1
Vellodi, A.2
El-Beshlawy, A.3
-
16
-
-
0034103463
-
Type 2 Gaucher disease: The collodion baby phenotype revisited
-
1:STN:280:DC%2BD3c7ltVentQ%3D%3D 10.1136/fn.82.2.F163 10685993
-
DL Stone WF Carey J Christodoulou, et al. 2000 Type 2 Gaucher disease: the collodion baby phenotype revisited Arch Dis Child Fetal Neonatal Ed 82 2 F163 F166 1:STN:280:DC%2BD3c7ltVentQ%3D%3D 10.1136/fn.82.2.F163 10685993
-
(2000)
Arch Dis Child Fetal Neonatal Ed
, vol.82
, Issue.2
-
-
Stone, D.L.1
Carey, W.F.2
Christodoulou, J.3
-
17
-
-
78751468768
-
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
-
Mar. 20. [Epub ahead of print]
-
Kraoua I, Sedel F, Caillaud C, et al. A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients. Brain Dev, 2010 Mar. 20. [Epub ahead of print]
-
(2010)
Brain Dev
-
-
Kraoua, I.1
Sedel, F.2
Caillaud, C.3
-
18
-
-
0034880737
-
Audiometric abnormalities in children with gaucher disease type 3
-
DOI 10.1055/s-2001-16611
-
DE Bamiou P Campbell A Liasis, et al. 2001 Audiometric abnormalities in children with Gaucher disease type 3 Neuropediatrics 32 3 136 141 1:STN:280:DC%2BD3MvnslGntA%3D%3D 10.1055/s-2001-16611 11521209 (Pubitemid 32747625)
-
(2001)
Neuropediatrics
, vol.32
, Issue.3
, pp. 136-141
-
-
Bamiou, D.-E.1
Campbell, P.2
Liasis, A.3
Page, J.4
Sirimanna, T.5
Boyd, S.6
Vellodi, A.7
Harris, C.8
-
19
-
-
35248885136
-
A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease
-
DOI 10.1007/s10545-007-0595-x
-
EH Davies R Surtees C DeVile, et al. 2007 A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease J Inherit Metab Dis 30 5 768 782 1:STN:280:DC%2BD2sngt1SisA%3D%3D 10.1007/s10545-007-0595- x 17876722 (Pubitemid 47559890)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.5
, pp. 768-782
-
-
Davies, E.H.1
Surtees, R.2
DeVile, C.3
Schoon, I.4
Vellodi, A.5
-
20
-
-
45849136270
-
'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type i Gaucher disease patients and a systematic review of the literature
-
1:STN:280:DC%2BD1czovFegsg%3D%3D 10.1007/s10545-008-0832-y 18404411
-
M Biegstraaten IN van Schaik JM Aerts, et al. 2008 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature J Inherit Metab Dis 31 3 337 349 1:STN:280:DC%2BD1czovFegsg%3D%3D 10.1007/s10545-008-0832-y 18404411
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.3
, pp. 337-349
-
-
Biegstraaten, M.1
Van Schaik, I.N.2
Aerts, J.M.3
-
21
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
10.1001/archneurol.2009.72 19433656
-
J Mitsui I Mizuta A Toyoda, et al. 2009 Mutations for Gaucher disease confer high susceptibility to Parkinson disease Arch Neurol 66 5 571 576 10.1001/archneurol.2009.72 19433656
-
(2009)
Arch Neurol
, vol.66
, Issue.5
, pp. 571-576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
-
22
-
-
60249097449
-
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
-
1:CAS:528:DC%2BD1MXit1OjtrY%3D 10.1016/j.neulet.2009.01.029 19383421
-
K Kalinderi S Bostantjopoulou C Paisan-Ruiz, et al. 2009 Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece Neurosci Lett 452 2 87 89 1:CAS:528:DC%2BD1MXit1OjtrY%3D 10.1016/j.neulet.2009.01.029 19383421
-
(2009)
Neurosci Lett
, vol.452
, Issue.2
, pp. 87-89
-
-
Kalinderi, K.1
Bostantjopoulou, S.2
Paisan-Ruiz, C.3
-
23
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
1:CAS:528:DC%2BD1MXhtlWgs77P 10.1056/NEJMoa0901281 19846850
-
E Sidransky MA Nalls JO Aasly, et al. 2009 Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease N Engl J Med 361 17 1651 1661 1:CAS:528:DC%2BD1MXhtlWgs77P 10.1056/NEJMoa0901281 19846850
-
(2009)
N Engl J Med
, vol.361
, Issue.17
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
24
-
-
4344702722
-
Mutations in the gene encoding cytosolic β-glucosidase in Gaucher disease
-
DOI 10.1016/j.lab.2004.03.013, PII S0022214304000800
-
E Beutler L Beutler C West 2004 Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease J Lab Clin Med 144 2 65 68 1:CAS:528:DC%2BD2cXmvFWls7s%3D 10.1016/j.lab.2004.03.013 15322500 (Pubitemid 39119804)
-
(2004)
Journal of Laboratory and Clinical Medicine
, vol.144
, Issue.2
, pp. 65-68
-
-
Beutler, E.1
Beutler, L.2
West, C.3
-
25
-
-
77953229340
-
The risk of Parkinson's disease in type 1 Gaucher disease
-
10.1007/s10545-010-9055-0 20177787
-
G Bultron K Kacena D Pearson, et al. 2010 The risk of Parkinson's disease in type 1 Gaucher disease J Inherit Metab Dis 33 2 167 173 10.1007/s10545-010- 9055-0 20177787
-
(2010)
J Inherit Metab Dis
, vol.33
, Issue.2
, pp. 167-173
-
-
Bultron, G.1
Kacena, K.2
Pearson, D.3
-
26
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 anti type 3 gaucher disease
-
DOI 10.1086/302925
-
V Koprivica DL Stone JK Park, et al. 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease Am J Hum Genet 66 6 1777 1786 1:CAS:528:DC%2BD3cXntV2jtbo%3D 10.1086/302925 10796875 (Pubitemid 30480085)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.6
, pp. 1777-1786
-
-
Koprivica, V.1
Stone, D.L.2
Park, J.K.3
Callahan, M.4
Frisch, A.5
Cohen, I.J.6
Tayebi, N.7
Sidransky, E.8
-
27
-
-
0037369244
-
Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup
-
DOI 10.1203/01.PDR.0000049515.79882.94
-
JK Park E Orvisky N Tayebi, et al. 2003 Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup Pediatr Res 53 3 387 395 10.1203/01.PDR.0000049515.79882.94 12595585 (Pubitemid 36237392)
-
(2003)
Pediatric Research
, vol.53
, Issue.3
, pp. 387-395
-
-
Park, J.K.1
Orvisky, E.2
Tayebi, N.3
Kaneski, C.4
Lamarca, M.E.5
Stubblefield, B.K.6
Martin, B.M.7
Schiffmann, R.8
Sidransky, E.9
-
28
-
-
0035005865
-
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation
-
DOI 10.1034/j.1399-0004.2001.590511.x
-
R George J McMahon B Lytle B Clark A Lichtin 2001 Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation Clin Genet 59 5 360 363 1:STN:280:DC%2BD3M3ns1Sgug%3D%3D 10.1034/j.1399-0004.2001.590511.x 11359469 (Pubitemid 32451976)
-
(2001)
Clinical Genetics
, vol.59
, Issue.5
, pp. 360-363
-
-
George, R.1
McMahon, J.2
Lytle, B.3
Clark, B.4
Lichtin, A.5
-
29
-
-
39049183267
-
Homozygosity for the double D409H+H255Q allele in type II Gaucher disease
-
1:CAS:528:DC%2BD28Xnsl2ju7s%3D 10.1007/s10545-006-0316-x 16830265
-
H Michelakakis M Moraitou E Dimitriou, et al. 2006 Homozygosity for the double D409H+H255Q allele in type II Gaucher disease J Inherit Metab Dis 29 4 591 1:CAS:528:DC%2BD28Xnsl2ju7s%3D 10.1007/s10545-006-0316-x 16830265
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.4
, pp. 591
-
-
Michelakakis, H.1
Moraitou, M.2
Dimitriou, E.3
-
30
-
-
77950224142
-
Hematopoietic stem cell transplantation for Gaucher disease
-
Somaraju UR, Tadepalli K. Hematopoietic stem cell transplantation for Gaucher disease. Cochrane Database Syst Rev, (4): CD006974, 2008
-
(2008)
Cochrane Database Syst Rev
, Issue.4
-
-
Somaraju, U.R.1
Tadepalli, K.2
-
31
-
-
70350304844
-
Management of neuronopathic Gaucher disease: Revised recommendations
-
1:STN:280:DC%2BD1MjgtVGhug%3D%3D 10.1007/s10545-009-1164-2 19655269
-
A Vellodi A Tylki-Szymanska EH Davies, et al. 2009 Management of neuronopathic Gaucher disease: revised recommendations J Inherit Metab Dis 32 5 660 664 1:STN:280:DC%2BD1MjgtVGhug%3D%3D 10.1007/s10545-009-1164-2 19655269
-
(2009)
J Inherit Metab Dis
, vol.32
, Issue.5
, pp. 660-664
-
-
Vellodi, A.1
Tylki-Szymanska, A.2
Davies, E.H.3
-
32
-
-
3242790843
-
Deterioration of the auditory brainstem response in children with type 3 Gaucher disease
-
15277647
-
PE Campbell CM Harris A Vellodi 2004 Deterioration of the auditory brainstem response in children with type 3 Gaucher disease Neurology 63 2 385 387 15277647
-
(2004)
Neurology
, vol.63
, Issue.2
, pp. 385-387
-
-
Campbell, P.E.1
Harris, C.M.2
Vellodi, A.3
-
33
-
-
47649097065
-
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
-
10.1016/j.jpeds.2007.12.023 18571543
-
O Goker-Alpan EA Wiggs MJ Eblan, et al. 2008 Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease J Pediatr 153 1 89 94 10.1016/j.jpeds.2007.12.023 18571543
-
(2008)
J Pediatr
, vol.153
, Issue.1
, pp. 89-94
-
-
Goker-Alpan, O.1
Wiggs, E.A.2
Eblan, M.J.3
-
34
-
-
57749100376
-
Randomized, controlled trial of miglustat in Gaucher's disease type 3
-
10.1002/ana.21491 19067373
-
R Schiffmann EJ Fitzgibbon C Harris, et al. 2008 Randomized, controlled trial of miglustat in Gaucher's disease type 3 Ann Neurol 64 5 514 522 10.1002/ana.21491 19067373
-
(2008)
Ann Neurol
, vol.64
, Issue.5
, pp. 514-522
-
-
Schiffmann, R.1
Fitzgibbon, E.J.2
Harris, C.3
|