-
1
-
-
0027759812
-
Hereditary spastic paraplegias
-
Harding AE. Hereditary spastic paraplegias. Semin Neurol 1993;13:333-336.
-
(1993)
Semin Neurol
, vol.13
, pp. 333-336
-
-
Harding, A.E.1
-
2
-
-
0030843168
-
Advances in hereditary spastic paraplegia
-
Fink JK. Advances in hereditary spastic paraplegia. Curr Opin Neurol 1997;10:313-318.
-
(1997)
Curr Opin Neurol
, vol.10
, pp. 313-318
-
-
Fink, J.K.1
-
3
-
-
85031355010
-
-
Invited Experts of the Sociedad Iberoamericana de Información Científica (SIIC) En Internet, Available at:, Accessed December 15, 2006
-
Orlacchio A, Patrono C, Orlacchio A, et al. Clinical and genetic studies in hereditary spastic paraplegia. Invited Experts of the Sociedad Iberoamericana de Información Científica (SIIC) En Internet 2006. Available at: http://www.siicsalud.com/dato/dat051/06d13002.htm. Accessed December 15, 2006.
-
(2006)
Clinical and genetic studies in hereditary spastic paraplegia
-
-
Orlacchio, A.1
Patrono, C.2
Orlacchio, A.3
-
4
-
-
0032750048
-
The hereditary spastic paraplegias
-
Reid E. The hereditary spastic paraplegias. J Neurol 1999;246:995-1003.
-
(1999)
J Neurol
, vol.246
, pp. 995-1003
-
-
Reid, E.1
-
5
-
-
0000891109
-
Familial spastic paraplegia with amyotrophy of the hands
-
Silver JR. Familial spastic paraplegia with amyotrophy of the hands. J Neurol Neurosurg Psychiatry 1966;29: 135-144.
-
(1966)
J Neurol Neurosurg Psychiatry
, vol.29
, pp. 135-144
-
-
Silver, J.R.1
-
6
-
-
0034969438
-
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
-
Patel H, Hart PE, Warner TT, et al. The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet 2001; 69:209-215.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 209-215
-
-
Patel, H.1
Hart, P.E.2
Warner, T.T.3
-
7
-
-
10744229057
-
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
-
Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004;36:271-276.
-
(2004)
Nat Genet
, vol.36
, pp. 271-276
-
-
Windpassinger, C.1
Auer-Grumbach, M.2
Irobi, J.3
-
8
-
-
0035934020
-
Silver syndrome is not linked to any of the previously established autoso-mal dominant hereditary spastic paraplegia loci
-
Patel H, Hart PE, Warner TT, et al. Silver syndrome is not linked to any of the previously established autoso-mal dominant hereditary spastic paraplegia loci. Am J Med Genet 2001;102:68-72.
-
(2001)
Am J Med Genet
, vol.102
, pp. 68-72
-
-
Patel, H.1
Hart, P.E.2
Warner, T.T.3
-
9
-
-
0037069247
-
Clinical and genetic study of a large Italian family linked to SPG12 locus
-
Orlacchio A, Kawarai T, Rogaeva E, et al. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 2002;59:1395-1401.
-
(2002)
Neurology
, vol.59
, pp. 1395-1401
-
-
Orlacchio, A.1
Kawarai, T.2
Rogaeva, E.3
-
10
-
-
24644469037
-
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1
-
Orlacchio A, Kawarai T, Gaudiello F, St George-Hyslop PH, Floris R, Bernardi G. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann Neurol 2005;58:423-429.
-
(2005)
Ann Neurol
, vol.58
, pp. 423-429
-
-
Orlacchio, A.1
Kawarai, T.2
Gaudiello, F.3
St George-Hyslop, P.H.4
Floris, R.5
Bernardi, G.6
-
11
-
-
0031039451
-
Motor evoked potentials in the spinocerebel-lar ataxias type 1 and type 3
-
Schöls L, Amoiridis G, Langkafel M, Schöls S, Przuntek H. Motor evoked potentials in the spinocerebel-lar ataxias type 1 and type 3. Muscle Nerve 1997;20: 226-228.
-
(1997)
Muscle Nerve
, vol.20
, pp. 226-228
-
-
Schöls, L.1
Amoiridis, G.2
Langkafel, M.3
Schöls, S.4
Przuntek, H.5
-
12
-
-
2642589007
-
Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
-
Schöls L, Amoiridis G, Büttner T, Przuntek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 1997;42:924-932.
-
(1997)
Ann Neurol
, vol.42
, pp. 924-932
-
-
Schöls, L.1
Amoiridis, G.2
Büttner, T.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
13
-
-
0031019528
-
The relative value of facial, glossal, and masticatory muscles in the electrodiagnosis of amyotrophic lateral sclerosis
-
Preston DC, Shapiro BE, Raynor EM, Kothari MJ. The relative value of facial, glossal, and masticatory muscles in the electrodiagnosis of amyotrophic lateral sclerosis. Muscle Nerve 1997;20:370-372.
-
(1997)
Muscle Nerve
, vol.20
, pp. 370-372
-
-
Preston, D.C.1
Shapiro, B.E.2
Raynor, E.M.3
Kothari, M.J.4
-
14
-
-
0031971694
-
Autosomal dominant pure spastic paraplegia: A clinical, paraclini-cal, and genetic study
-
Nielsen JE, Krabbe K, Jennum P, et al. Autosomal dominant pure spastic paraplegia: a clinical, paraclini-cal, and genetic study. J Neurol Neurosurg Psychiatry 1998;64:61-66.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 61-66
-
-
Nielsen, J.E.1
Krabbe, K.2
Jennum, P.3
-
15
-
-
0036240737
-
Electromyography of sternocleidomastoid muscle in ALS: A prospective study
-
Li J, Petajan J, Smith G, Bromberg M. Electromyography of sternocleidomastoid muscle in ALS: a prospective study. Muscle Nerve 2002;25:725-728.
-
(2002)
Muscle Nerve
, vol.25
, pp. 725-728
-
-
Li, J.1
Petajan, J.2
Smith, G.3
Bromberg, M.4
-
16
-
-
0021271971
-
Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's disease
-
McKhann G, Drachman D, Folstein MF, Katzman R, Price D, Standlan EM. Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's disease. Neurology 1984;34:939-944.
-
(1984)
Neurology
, vol.34
, pp. 939-944
-
-
McKhann, G.1
Drachman, D.2
Folstein, M.F.3
Katzman, R.4
Price, D.5
Standlan, E.M.6
-
17
-
-
0035195760
-
Current concepts in mild cognitive impairment
-
Petersen RC, Doody R, Kurz A, et al. Current concepts in mild cognitive impairment. Arch Neurol 2001;58: 1985-1992.
-
(2001)
Arch Neurol
, vol.58
, pp. 1985-1992
-
-
Petersen, R.C.1
Doody, R.2
Kurz, A.3
-
18
-
-
0023037928
-
CAMDEX: A standardised instrument, for the diagnosis of mental disorders in the elderly with special reference to, the early detection of dementia
-
Roth M, Tym E, Mountjoy CQ, et al. CAMDEX: a standardised instrument, for the diagnosis of mental disorders in the elderly with special reference to, the early detection of dementia. Br J Psychiatry 1986;149: 698-709.
-
(1986)
Br J Psychiatry
, vol.149
, pp. 698-709
-
-
Roth, M.1
Tym, E.2
Mountjoy, C.Q.3
-
19
-
-
0031976287
-
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
-
Webb S, Coleman D, Byrne P, et al. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 1998;121 (Pt 4):601- 609.
-
(1998)
Brain
, vol.121
, Issue.PART 4
, pp. 601-609
-
-
Webb, S.1
Coleman, D.2
Byrne, P.3
-
20
-
-
0041522717
-
Subtle cognitive impairment but no dementia in patients with spastin mutations
-
Tallaksen CM, Guichart-Gomez E, Verpillat P, et al. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 2003;60: 1113-1118.
-
(2003)
Arch Neurol
, vol.60
, pp. 1113-1118
-
-
Tallaksen, C.M.1
Guichart-Gomez, E.2
Verpillat, P.3
-
21
-
-
26444610811
-
Clinical and genetic study of a large SPG4 Italian family
-
Orlacchio A, Kawarai T, Gaudiello F, et al. Clinical and genetic study of a large SPG4 Italian family. Mov Disord 2005;20:1055-1059.
-
(2005)
Mov Disord
, vol.20
, pp. 1055-1059
-
-
Orlacchio, A.1
Kawarai, T.2
Gaudiello, F.3
-
22
-
-
0032733205
-
Incidental detection of hippocampal sclerosis on MR Images: Is it significant?
-
Moore KR, Swallow CE, Tsuruda JS. Incidental detection of hippocampal sclerosis on MR Images: is it significant? AJNR Am J Neuroradiol 1999;20:1609-1612.
-
(1999)
AJNR Am J Neuroradiol
, vol.20
, pp. 1609-1612
-
-
Moore, K.R.1
Swallow, C.E.2
Tsuruda, J.S.3
-
23
-
-
0030728925
-
Allele-sharing models: LOD scores and accurate linkage tests
-
Kong A, Cox NJ. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 1997;61: 1169-1178.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1169-1178
-
-
Kong, A.1
Cox, N.J.2
-
27
-
-
0034895430
-
Recent advances in hereditary spastic paraplegia
-
Tallaksen CM, Dürr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opin Neurol 2001; 14:457-463.
-
(2001)
Curr Opin Neurol
, vol.14
, pp. 457-463
-
-
Tallaksen, C.M.1
Dürr, A.2
Brice, A.3
-
28
-
-
0041550246
-
The association of familiar spastic paraplegia and epilepsy in one family
-
Bruyn GW, Mechelse K. The association of familiar spastic paraplegia and epilepsy in one family. Psychiatr Neurol Neurochir 1962;65:280-292.
-
(1962)
Psychiatr Neurol Neurochir
, vol.65
, pp. 280-292
-
-
Bruyn, G.W.1
Mechelse, K.2
-
30
-
-
0042768145
-
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy
-
Lo Nigro C, Cusano R, Gigli GL, et al. Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. Am J Med Genet A 2003;117:116-121.
-
(2003)
Am J Med Genet A
, vol.117
, pp. 116-121
-
-
Lo Nigro, C.1
Cusano, R.2
Gigli, G.L.3
-
31
-
-
0242691095
-
Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
-
Simpson MA, Cross H, Proukakis C, et al. Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003;73:1147-1156.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
-
32
-
-
1042299828
-
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
-
McMonagle P, Byrne P, Hutchinson M. Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology 2004;62:407- 410.
-
(2004)
Neurology
, vol.62
, pp. 407-410
-
-
McMonagle, P.1
Byrne, P.2
Hutchinson, M.3
-
33
-
-
2442687877
-
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
-
Orlacchio A, Gaudiello F, Totaro A, et al. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 2004;62:1875- 1878.
-
(2004)
Neurology
, vol.62
, pp. 1875-1878
-
-
Orlacchio, A.1
Gaudiello, F.2
Totaro, A.3
-
34
-
-
33646710897
-
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
-
Al-Yahyaee S, Al-Gazali LI, De Jonghe P, et al. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 2006;66:1230-1234.
-
(2006)
Neurology
, vol.66
, pp. 1230-1234
-
-
Al-Yahyaee, S.1
Al-Gazali, L.I.2
De Jonghe, P.3
-
35
-
-
0036202996
-
Ammon's horn sclerosis: A maldevelopmental disorder associated with temporal lobe epilepsy
-
Blümcke I, Thom M, Wiestler OD. Ammon's horn sclerosis: a maldevelopmental disorder associated with temporal lobe epilepsy. Brain Pathol 2002;12:199-211.
-
(2002)
Brain Pathol
, vol.12
, pp. 199-211
-
-
Blümcke, I.1
Thom, M.2
Wiestler, O.D.3
-
36
-
-
10744224527
-
PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier
-
Rogaeva E, Bergeron C, Sato C, et al. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Neurology 2003;61:1005-1007.
-
(2003)
Neurology
, vol.61
, pp. 1005-1007
-
-
Rogaeva, E.1
Bergeron, C.2
Sato, C.3
-
37
-
-
27644498533
-
Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine
-
Orso G, Martinuzzi A, Rossetto MG, Sartori E, Feany M, Daga A. Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine. J Clin Invest 2005; 115:3026-3034.
-
(2005)
J Clin Invest
, vol.115
, pp. 3026-3034
-
-
Orso, G.1
Martinuzzi, A.2
Rossetto, M.G.3
Sartori, E.4
Feany, M.5
Daga, A.6
-
38
-
-
33947713961
-
Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing
-
White SR, Evans KJ, Lary J, Cole JL, Lauring B. Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing. J Cell Biol 2007;176:995-1005.
-
(2007)
J Cell Biol
, vol.176
, pp. 995-1005
-
-
White, S.R.1
Evans, K.J.2
Lary, J.3
Cole, J.L.4
Lauring, B.5
-
39
-
-
0842285550
-
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes
-
Windpassinger C, Wagner K, Petek E, Fischer R, Auer-Grumbach M. Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Hum Genet 2003;114:99- 109.
-
(2003)
Hum Genet
, vol.114
, pp. 99-109
-
-
Windpassinger, C.1
Wagner, K.2
Petek, E.3
Fischer, R.4
Auer-Grumbach, M.5
-
40
-
-
4644255616
-
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia
-
Warner TT, Patel H, Proukakis C, et al. A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol 2004;251:1068-1074.
-
(2004)
J Neurol
, vol.251
, pp. 1068-1074
-
-
Warner, T.T.1
Patel, H.2
Proukakis, C.3
-
41
-
-
33746094658
-
Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
-
Evans K, Keller C, Pavur K, Glasgow K, Conn B, Lauring B. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. Proc Natl Acad Sci USA 2006;103:10666-10671.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 10666-10671
-
-
Evans, K.1
Keller, C.2
Pavur, K.3
Glasgow, K.4
Conn, B.5
Lauring, B.6
-
42
-
-
33746536549
-
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia
-
Mannan AU, Krawen P, Sauter SM, et al. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia Am J Hum Genet 2006; 79:351-357.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 351-357
-
-
Mannan, A.U.1
Krawen, P.2
Sauter, S.M.3
-
43
-
-
0343090417
-
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: A clinical, electrophysio-logical and genetic study
-
Auer-Grumbach M, Löscher WN, Wagner K, et al. Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysio-logical and genetic study. Brain 2000;123:1612-1623.
-
(2000)
Brain
, vol.123
, pp. 1612-1623
-
-
Auer-Grumbach, M.1
Löscher, W.N.2
Wagner, K.3
-
44
-
-
4344641102
-
The pheno-type of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
-
Irobi J, Van den Bergh P, Merlini L, et al. The pheno-type of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 2004;127:2124-2130.
-
(2004)
Brain
, vol.127
, pp. 2124-2130
-
-
Irobi, J.1
Van den Bergh, P.2
Merlini, L.3
-
45
-
-
35648990564
-
-
Rohkamm B, Reilly MM, Lochmüller H, et al. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci Epub 2007 Jul 27.
-
Rohkamm B, Reilly MM, Lochmüller H, et al. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci Epub 2007 Jul 27.
-
-
-
|