-
1
-
-
36048936624
-
Hereditary spastic paraplegias: An update
-
1:CAS:528:DC%2BD2sXhsVGhs7nP 17992088 10.1097/WCO.0b013e3282f190ba
-
Depienne C, Stevanin G, Brice A, Durr A (2007) Hereditary spastic paraplegias: an update. Curr Opin Neurol 20:674-680
-
(2007)
Curr Opin Neurol
, vol.20
, pp. 674-680
-
-
Depienne, C.1
Stevanin, G.2
Brice, A.3
Durr, A.4
-
2
-
-
41549153666
-
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
-
1:CAS:528:DC%2BD1cXltVKrtro%3D 2427184 18394578 10.1016/j.ajhg.2008.03. 004
-
Hanein S, Martin E, Boukhris A et al (2008) Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 82:992-1002
-
(2008)
Am J Hum Genet
, vol.82
, pp. 992-1002
-
-
Hanein, S.1
Martin, E.2
Boukhris, A.3
-
3
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
1:STN:280:DyaL3s7ptFSlsQ%3D%3D 6133167 10.1016/S0140-6736(83)92879-9
-
Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1:1151-1155
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
4
-
-
84861618858
-
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
-
22554690 10.1016/j.jns.2012.03.025
-
Finsterer J, Löscher W, Quasthoff S et al (2012) Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 318:1-18
-
(2012)
J Neurol Sci
, vol.318
, pp. 1-18
-
-
Finsterer, J.1
Löscher, W.2
Quasthoff, S.3
-
5
-
-
0025876335
-
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
-
2043954 10.1093/brain/114.2.855
-
Polo JM, Calleja J, Combarros O, Berciano J (1991) Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 114:855-866
-
(1991)
Brain
, vol.114
, pp. 855-866
-
-
Polo, J.M.1
Calleja, J.2
Combarros, O.3
Berciano, J.4
-
6
-
-
35448977321
-
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
-
17661097 10.1007/s10048-007-0097-x
-
Elleuch N, Bouslam N, Hanein S et al (2007) Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics 8:307-315
-
(2007)
Neurogenetics
, vol.8
, pp. 307-315
-
-
Elleuch, N.1
Bouslam, N.2
Hanein, S.3
-
7
-
-
39749114979
-
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
-
18079167 10.1093/brain/awm293
-
Stevanin G, Azzedine H, Denora P et al (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131:772-784
-
(2008)
Brain
, vol.131
, pp. 772-784
-
-
Stevanin, G.1
Azzedine, H.2
Denora, P.3
-
8
-
-
40849083525
-
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15 and further genetic heterogeneity
-
18332254 10.1001/archneur.65.3.393
-
Boukhris A, Stevanin G, Feki I et al (2008) Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15 and further genetic heterogeneity. Arch Neurol 65:393-402
-
(2008)
Arch Neurol
, vol.65
, pp. 393-402
-
-
Boukhris, A.1
Stevanin, G.2
Feki, I.3
-
9
-
-
0016173785
-
Hereditary spastic paraplegia in Western Norway
-
1:STN:280:DyaE2M%2Fjsl2qug%3D%3D 4426134 10.1111/j.1399-0004.1974. tb00647.x
-
Skre H (1974) Hereditary spastic paraplegia in Western Norway. Clin Genet 6:165-183
-
(1974)
Clin Genet
, vol.6
, pp. 165-183
-
-
Skre, H.1
-
10
-
-
0022389050
-
Prevalence and pattern of spinocerebellar degenerations in northeastern Libya
-
4075075 10.1093/brain/108.4.831
-
Sridharan R, Radhakrishnan K, Ashok PP, Mousa ME (1985) Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. Brain 108:831-843
-
(1985)
Brain
, vol.108
, pp. 831-843
-
-
Sridharan, R.1
Radhakrishnan, K.2
Ashok, P.P.3
Mousa, M.E.4
-
11
-
-
0022763594
-
Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy
-
1:STN:280:DyaL2s%2FgslGjsw%3D%3D 3759416 10.1007/BF02283021
-
Brignolio F, Leone M, Tribolo A et al (1986) Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy. Ital J Neurol Sci 7:431-435
-
(1986)
Ital J Neurol Sci
, vol.7
, pp. 431-435
-
-
Brignolio, F.1
Leone, M.2
Tribolo, A.3
-
12
-
-
0026736715
-
Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy
-
1:STN:280:DyaK38zotFGntQ%3D%3D 1512613 10.1007/BF00867594
-
Filla A, De Michele G, Marconi R et al (1992) Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 239:351-353
-
(1992)
J Neurol
, vol.239
, pp. 351-353
-
-
Filla, A.1
De Michele, G.2
Marconi, R.3
-
13
-
-
0028965481
-
Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: A study of prevalence and disability
-
1:STN:280:DyaK2MzhtlGhsw%3D%3D 7793232 10.1111/j.1600-0404.1995.tb00430.x
-
Leone M, Bottacchi E, D'Alessandro G, Kustermann S (1995) Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability. Acta Neurol Scand 91:183-187
-
(1995)
Acta Neurol Scand
, vol.91
, pp. 183-187
-
-
Leone, M.1
Bottacchi, E.2
D'Alessandro, G.3
Kustermann, S.4
-
14
-
-
0031453761
-
Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal
-
1:STN:280:DyaK1c7htFGqtg%3D%3D 9449941 10.1016/S0895-4356(97)00202-3
-
Silva MC, Coutinho P, Pinheiro CD, Neves JM, Serrano P (1997) Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal. J Clin Epidemiol 50:1377-1384
-
(1997)
J Clin Epidemiol
, vol.50
, pp. 1377-1384
-
-
Silva, M.C.1
Coutinho, P.2
Pinheiro, C.D.3
Neves, J.M.4
Serrano, P.5
-
15
-
-
0036148996
-
The prevalence of pure autosomal dominant hereditary spastic paraparesis in the island of Ireland
-
1:STN:280:DC%2BD38%2FlvVamsw%3D%3D 11784824 10.1136/jnnp.72.1.43
-
McMonagle P, Webb S, Hutchinson M (2002) The prevalence of pure autosomal dominant hereditary spastic paraparesis in the island of Ireland. J Neurol Neurosurg Psychiatry 72:43-46
-
(2002)
J Neurol Neurosurg Psychiatry
, vol.72
, pp. 43-46
-
-
McMonagle, P.1
Webb, S.2
Hutchinson, M.3
-
16
-
-
56749151355
-
The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia
-
10.1159/000177033
-
Braschinshy M, Lüüs SM, Gross-Paju K, Haldre S (2009) The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia. Neuroepidemiology 32:89-93
-
(2009)
Neuroepidemiology
, vol.32
, pp. 89-93
-
-
Braschinshy, M.1
Lüüs, S.M.2
Gross-Paju, K.3
Haldre, S.4
-
17
-
-
67649395907
-
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: A population based study
-
19339254 10.1093/brain/awp056
-
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009) Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population based study. Brain 132:1577-1588
-
(2009)
Brain
, vol.132
, pp. 1577-1588
-
-
Erichsen, A.K.1
Koht, J.2
Stray-Pedersen, A.3
Abdelnoor, M.4
Tallaksen, C.M.5
-
18
-
-
84895074373
-
Hereditary ataxia and spastic paraplegia in Portugal: A population-based prevalence study
-
Ruano L, Loureiro JL et al (2013) Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol 22:1-10
-
(2013)
JAMA Neurol
, vol.22
, pp. 1-10
-
-
Ruano, L.1
Loureiro, J.L.2
-
19
-
-
33746588738
-
The epidemiology of multiple sclerosis in Europe
-
1:STN:280:DC%2BD28vhsVOguw%3D%3D 16834700 10.1111/j.1468-1331.2006.01342. x
-
Pugliatti M, Rosati G, Carton H et al (2006) The epidemiology of multiple sclerosis in Europe. Eur J Neurol 13:700-722
-
(2006)
Eur J Neurol
, vol.13
, pp. 700-722
-
-
Pugliatti, M.1
Rosati, G.2
Carton, H.3
-
20
-
-
70349766712
-
Clustering of multiple sclerosis, age of onset and gender in Sardinia
-
19674758 10.1016/j.jns.2009.07.013
-
Pugliatti M, Cossu P, Sotgiu S, Rosati G, Riise T (2009) Clustering of multiple sclerosis, age of onset and gender in Sardinia. J Neurol Sci 286:6-13
-
(2009)
J Neurol Sci
, vol.286
, pp. 6-13
-
-
Pugliatti, M.1
Cossu, P.2
Sotgiu, S.3
Rosati, G.4
Riise, T.5
-
21
-
-
38949113705
-
Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: Inference for association scans
-
2174525 18183308 10.1371/journal.pone.0001430
-
Contu D, Morelli L, Santoni F et al (2008) Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans. PLoS ONE 3:e1430
-
(2008)
PLoS ONE
, vol.3
, pp. 1430
-
-
Contu, D.1
Morelli, L.2
Santoni, F.3
-
22
-
-
84895074076
-
-
Accessed 24 October 2012
-
DemoIstat http://demo.istat.it/pop2010/index.html. Accessed 24 October 2012
-
DemoIstat
-
-
-
23
-
-
8944250670
-
Hereditary spastic paraplegia: Advances in genetic research
-
Hereditary Spastic Paraplegia Working Group et al. 1:STN:280: DyaK283kvV2mtQ%3D%3D 8649538 10.1212/WNL.46.6.1507
-
Fink JK, Heiman-Patterson T, Bird T, Hereditary Spastic Paraplegia Working Group et al (1996) Hereditary spastic paraplegia: advances in genetic research. Neurology 46:1507-1514
-
(1996)
Neurology
, vol.46
, pp. 1507-1514
-
-
Fink, J.K.1
Heiman-Patterson, T.2
Bird, T.3
-
24
-
-
0030977483
-
Pure hereditary spastic paraplegia
-
1:STN:280:DyaK2szjsFKjtA%3D%3D 9192272 10.1136/jmg.34.6.499
-
Reid E (1997) Pure hereditary spastic paraplegia. J Med Genet 34:499-503
-
(1997)
J Med Genet
, vol.34
, pp. 499-503
-
-
Reid, E.1
-
25
-
-
33746798981
-
Clinical features of hereditary spastic paraplegia due to spastin mutation
-
1:STN:280:DC%2BD28vhtFektA%3D%3D 10.1212/01.wnl.0000223315.62404.00
-
Mc Dermott CJ, Burness CE, Kirby J et al (2006) Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology 67:45-51
-
(2006)
Neurology
, vol.67
, pp. 45-51
-
-
Mc Dermott, C.J.1
Burness, C.E.2
Kirby, J.3
-
26
-
-
84895073090
-
-
Associazione Italiana Vivere la Paraparesi Spastica (VIPS) Accessed 6 November 2012
-
Associazione Italiana Vivere la Paraparesi Spastica (VIPS). http://www.vipsonlus.it. Accessed 6 November 2012
-
-
-
-
27
-
-
34249777722
-
SPATAX-European Network for hereditary spinocerebellar degenerative disorders
-
10.1034/j.1600-0404.2003.00125-18.x
-
Tallaksen CM (2003) SPATAX-European Network for hereditary spinocerebellar degenerative disorders. Acta Neurol Scand 107:433-434
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 433-434
-
-
Tallaksen, C.M.1
-
28
-
-
33747050378
-
The Spastic Paraplegia Rating Scale (SPRS): A reliable and valid measure of disease severity
-
16894103 10.1212/01.wnl.0000228242.53336.90
-
Schüle R, Holland-Letz Klimpe S (2006) The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430-434
-
(2006)
Neurology
, vol.67
, pp. 430-434
-
-
Schüle, R.1
Holland-Letz, K.S.2
-
29
-
-
0034163576
-
Spectrum of SPG4 mutations in autosomal dominant hereditary spastic paraplegia
-
1:CAS:528:DC%2BD3cXhvVGnur0%3D 10699187 10.1093/hmg/9.4.637
-
Fonknechten N, Mavel D, Byrne P et al (2000) Spectrum of SPG4 mutations in autosomal dominant hereditary spastic paraplegia. Hum Mol Genet 9:637-644
-
(2000)
Hum Mol Genet
, vol.9
, pp. 637-644
-
-
Fonknechten, N.1
Mavel, D.2
Byrne, P.3
-
30
-
-
0002622570
-
La consanguineità umana nell'isola di Sardegna dal secolo XVIII al secolo XX
-
Moroni A, Anelli A, Anghinetti W, Lucchetti E, Rossi O, Siri E (1972) La consanguineità umana nell'isola di Sardegna dal secolo XVIII al secolo XX. Ateneo Parmese 8:69-82
-
(1972)
Ateneo Parmese
, vol.8
, pp. 69-82
-
-
Moroni, A.1
Anelli, A.2
Anghinetti, W.3
Lucchetti, E.4
Rossi, O.5
Siri, E.6
-
31
-
-
84885915837
-
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
-
13 Mar 2013
-
Gialluisi A, Incollu S, Pippucci T et al (2013) The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet Epub 13 Mar 2013
-
(2013)
Eur J Hum Genet Epub
-
-
Gialluisi, A.1
Incollu, S.2
Pippucci, T.3
-
32
-
-
31544466788
-
Hereditary spastic paraplegia
-
1:CAS:528:DC%2BD28XhsFSrsrs%3D 16469273 10.1007/s11910-996-0011-1
-
Fink JK (2006) Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 6:65-76
-
(2006)
Curr Neurol Neurosci Rep
, vol.6
, pp. 65-76
-
-
Fink, J.K.1
-
33
-
-
0034895430
-
Recent advances in hereditary spastic paraplegia
-
10.1097/00019052-200108000-00005
-
Tallaksen CM, Dürr A, Brice A (2000) Recent advances in hereditary spastic paraplegia. Curr Opin Neurol 14:457-463
-
(2000)
Curr Opin Neurol
, vol.14
, pp. 457-463
-
-
Tallaksen, C.M.1
Dürr, A.2
Brice, A.3
-
34
-
-
0028037953
-
The phenotype of "pure" autosomal dominant spastic paraplegia
-
8035929 10.1212/WNL.44.7.1274
-
Dürr A, Brice A, Serdaru M et al (1994) The phenotype of "pure" autosomal dominant spastic paraplegia. Neurology 44:1274-1277
-
(1994)
Neurology
, vol.44
, pp. 1274-1277
-
-
Dürr, A.1
Brice, A.2
Serdaru, M.3
-
35
-
-
0033821055
-
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
-
1:CAS:528:DC%2BD3cXntVCgs7Y%3D 10980739 10.1212/WNL.55.5.702
-
Santorelli FM, Patrono C, Fortini D et al (2000) Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. Neurology 55:702-705
-
(2000)
Neurology
, vol.55
, pp. 702-705
-
-
Santorelli, F.M.1
Patrono, C.2
Fortini, D.3
|