-
1
-
-
0019191433
-
Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome
-
Abdallat A., Davis S.M., Farrage J., and McDonald W.I. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. J Neurol Neurosurg Psychiatry 43 (1980) 962-966
-
(1980)
J Neurol Neurosurg Psychiatry
, vol.43
, pp. 962-966
-
-
Abdallat, A.1
Davis, S.M.2
Farrage, J.3
McDonald, W.I.4
-
2
-
-
19944433320
-
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
-
Abel A., Fonknechten N., Hofer A., Durr A., Cruaud C., Voit T., Weissenbach J., Brice A., Klimpe S., Auburger G., and Hazan J. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 5 (2004) 239-243
-
(2004)
Neurogenetics
, vol.5
, pp. 239-243
-
-
Abel, A.1
Fonknechten, N.2
Hofer, A.3
Durr, A.4
Cruaud, C.5
Voit, T.6
Weissenbach, J.7
Brice, A.8
Klimpe, S.9
Auburger, G.10
Hazan, J.11
-
3
-
-
0000033737
-
Some examples of the inheritance of mental deficiency: apparently sexlinked idiocy and microcephaly
-
Allan W., Herndon C.N., and Dudley F.C. Some examples of the inheritance of mental deficiency: apparently sexlinked idiocy and microcephaly. Am J Ment Defic 48 (1944) 325-334
-
(1944)
Am J Ment Defic
, vol.48
, pp. 325-334
-
-
Allan, W.1
Herndon, C.N.2
Dudley, F.C.3
-
4
-
-
18044401375
-
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia
-
Ashley-Koch A., Bonner E.R., Gaskell P.C., West S.G., Tim R., Wolpert C.M., Jones R., Farrell C.D., Nance M., Svenson I.K., Marchuk D.A., Boustany R.M., Vance J.M., Scott W.K., and Pericak-Vance M.A. Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. Neurogenetics 3 (2001) 91-97
-
(2001)
Neurogenetics
, vol.3
, pp. 91-97
-
-
Ashley-Koch, A.1
Bonner, E.R.2
Gaskell, P.C.3
West, S.G.4
Tim, R.5
Wolpert, C.M.6
Jones, R.7
Farrell, C.D.8
Nance, M.9
Svenson, I.K.10
Marchuk, D.A.11
Boustany, R.M.12
Vance, J.M.13
Scott, W.K.14
Pericak-Vance, M.A.15
-
5
-
-
0344736798
-
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
-
Atorino L., Silvestri L., Koppen M., Cassina L., Ballabio A., Marconi R., Langer T., and Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163 (2003) 777-787
-
(2003)
J Cell Biol
, vol.163
, pp. 777-787
-
-
Atorino, L.1
Silvestri, L.2
Koppen, M.3
Cassina, L.4
Ballabio, A.5
Marconi, R.6
Langer, T.7
Casari, G.8
-
6
-
-
0038556843
-
Vitiligo-spasticity syndrome: new case
-
Bamforth J.S. Vitiligo-spasticity syndrome: new case. Clin Dysmorphol 12 (2003) 137-139
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 137-139
-
-
Bamforth, J.S.1
-
7
-
-
0033166528
-
Identification and characterization of AFG3L2, a novel paraplegin-related gene
-
Banfi S., Bassi M.T., Andolfi G., Marchitiello A., Zanotta S., Ballabio A., Casari G., and Franco B. Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics 59 (1999) 51-58
-
(1999)
Genomics
, vol.59
, pp. 51-58
-
-
Banfi, S.1
Bassi, M.T.2
Andolfi, G.3
Marchitiello, A.4
Zanotta, S.5
Ballabio, A.6
Casari, G.7
Franco, B.8
-
8
-
-
0029957549
-
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
-
Bateman A., Jouet M., MacFarlane J., Du J.S., Kenwrick S., and Chothia C. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15 (1996) 6050-6059
-
(1996)
EMBO J
, vol.15
, pp. 6050-6059
-
-
Bateman, A.1
Jouet, M.2
MacFarlane, J.3
Du, J.S.4
Kenwrick, S.5
Chothia, C.6
-
9
-
-
0015945194
-
Strumpell's familial spastic paraplegia: genetics and neuropathology
-
Behan W.M.H., and Maia M. Strumpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry 37 (1974) 8-20
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, pp. 8-20
-
-
Behan, W.M.H.1
Maia, M.2
-
10
-
-
0026647270
-
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family
-
Bialer M.G., Lawrence L., Stevenson R.E., Silverberg G., Williams M.K., Arena J.F., Lubs H.A., and Schwartz C.E. Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet 43 (1992) 491-497
-
(1992)
Am J Med Genet
, vol.43
, pp. 491-497
-
-
Bialer, M.G.1
Lawrence, L.2
Stevenson, R.E.3
Silverberg, G.4
Williams, M.K.5
Arena, J.F.6
Lubs, H.A.7
Schwartz, C.E.8
-
11
-
-
10744230526
-
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32
-
Blumen S.C., Bevan S., Abu-Mouch S., Negus D., Kahana M., Inzelberg R., Mazarib A., Mahamid A., Carasso R.L., Slor H., Withers D., Nisipeanu P., Navon R., and Reid E. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol 54 (2003) 796-803
-
(2003)
Ann Neurol
, vol.54
, pp. 796-803
-
-
Blumen, S.C.1
Bevan, S.2
Abu-Mouch, S.3
Negus, D.4
Kahana, M.5
Inzelberg, R.6
Mazarib, A.7
Mahamid, A.8
Carasso, R.L.9
Slor, H.10
Withers, D.11
Nisipeanu, P.12
Navon, R.13
Reid, E.14
-
12
-
-
4444353437
-
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22?
-
author reply 1471
-
author reply 1471. Bohan T.P., and Azizi P. Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22?. Arch Neurol 61 (2004) 1470-1471
-
(2004)
Arch Neurol
, vol.61
, pp. 1470-1471
-
-
Bohan, T.P.1
Azizi, P.2
-
13
-
-
0027986675
-
Disruption of the compacted myelin sheets of axons of the central nervous system in proteolipid protein-deficient mice
-
Boison D., and Stoffel W. Disruption of the compacted myelin sheets of axons of the central nervous system in proteolipid protein-deficient mice. Proc Natl Acad Sci (USA) 91 (1994) 11709-11713
-
(1994)
Proc Natl Acad Sci (USA)
, vol.91
, pp. 11709-11713
-
-
Boison, D.1
Stoffel, W.2
-
14
-
-
0030811798
-
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene
-
Bond C., Si X., Crisp M., Wong P., Paulson G.W., Boesel C.P., Dlouhy S.R., and Hodes M.E. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. Am J Med Genet 71 (1997) 357-360
-
(1997)
Am J Med Genet
, vol.71
, pp. 357-360
-
-
Bond, C.1
Si, X.2
Crisp, M.3
Wong, P.4
Paulson, G.W.5
Boesel, C.P.6
Dlouhy, S.R.7
Hodes, M.E.8
-
15
-
-
0027212813
-
X-linked spastic paraplegia (SPG2): clinical heterogeneity at a single locus
-
Bonneau D., Rozet J.-M., Bulteau C., Berthier M., Mettey R., Gil R., Munnich A., and Le Merrer M. X-linked spastic paraplegia (SPG2): clinical heterogeneity at a single locus. J Med Genet 30 (1993) 381-384
-
(1993)
J Med Genet
, vol.30
, pp. 381-384
-
-
Bonneau, D.1
Rozet, J.-M.2
Bulteau, C.3
Berthier, M.4
Mettey, R.5
Gil, R.6
Munnich, A.7
Le Merrer, M.8
-
16
-
-
0042205087
-
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene
-
Bonsch D., Schwindt A., Navratil P., Palm D., Neumann C., Klimpe S., Schickel J., Hazan J., Weiller C., Deufel T., and Liepert J. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene. J Neurol Neurosurg Psychiatry 74 (2003) 1109-1112
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 1109-1112
-
-
Bonsch, D.1
Schwindt, A.2
Navratil, P.3
Palm, D.4
Neumann, C.5
Klimpe, S.6
Schickel, J.7
Hazan, J.8
Weiller, C.9
Deufel, T.10
Liepert, J.11
-
17
-
-
20144389697
-
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
-
Bouslam N., Benomar A., Azzedine H., Bouhouche A., Namekawa M., Klebe S., Charon C., Durr A., Ruberg M., Brice A., Yahyaoui M., and Stevanin G. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol 57 (2005) 567-571
-
(2005)
Ann Neurol
, vol.57
, pp. 567-571
-
-
Bouslam, N.1
Benomar, A.2
Azzedine, H.3
Bouhouche, A.4
Namekawa, M.5
Klebe, S.6
Charon, C.7
Durr, A.8
Ruberg, M.9
Brice, A.10
Yahyaoui, M.11
Stevanin, G.12
-
18
-
-
0030273292
-
Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamily
-
Brummendorf T., and Rathjen F.G. Structure/function relationships of axon-associated adhesion receptors of the immunoglobulin superfamily. Curr Opin Neurobiol 6 (1996) 584-593
-
(1996)
Curr Opin Neurobiol
, vol.6
, pp. 584-593
-
-
Brummendorf, T.1
Rathjen, F.G.2
-
19
-
-
0026631671
-
The neuropathology of hereditary spastic paraparesis
-
Bruyn R.P.M. The neuropathology of hereditary spastic paraparesis. Clin Neurol Neurosurg 94 (1992) S16-S18
-
(1992)
Clin Neurol Neurosurg
, vol.94
-
-
Bruyn, R.P.M.1
-
20
-
-
0017744466
-
Recurrence risks in families of children with symmetrical spasticity
-
Bundey S., and Griffiths M.I. Recurrence risks in families of children with symmetrical spasticity. Dev Med Child Neurol 19 (1977) 179-191
-
(1977)
Dev Med Child Neurol
, vol.19
, pp. 179-191
-
-
Bundey, S.1
Griffiths, M.I.2
-
21
-
-
0025804669
-
Allan-Herndon syndrome - or X-linked cerebral palsy?
-
Bundey S., Comley L.A., and Blair A. Allan-Herndon syndrome - or X-linked cerebral palsy?. Am J Hum Genet 48 (1991) 1214
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1214
-
-
Bundey, S.1
Comley, L.A.2
Blair, A.3
-
22
-
-
0033781121
-
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
-
Burger J., Fonknechten N., Hoeltzenbein M., Neumann L., Bratanoff E., Hazan J., and Reis A. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet 8 (2000) 771-776
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 771-776
-
-
Burger, J.1
Fonknechten, N.2
Hoeltzenbein, M.3
Neumann, L.4
Bratanoff, E.5
Hazan, J.6
Reis, A.7
-
23
-
-
0343238487
-
Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p
-
Byrne P.C., McMonagle P., Webb S., Fitzgerald B., Parfrey N.A., and Hutchinson M. Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p. Neurology 54 (2000) 1510-1517
-
(2000)
Neurology
, vol.54
, pp. 1510-1517
-
-
Byrne, P.C.1
McMonagle, P.2
Webb, S.3
Fitzgerald, B.4
Parfrey, N.A.5
Hutchinson, M.6
-
24
-
-
0033678145
-
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations
-
Cailloux F., Gauthier-Barichard F., Mimault C., Isabelle V., Courtois V., Giraud G., Dastugue B., and Boespflug-Tanguy O. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 8 (2000) 837-845
-
(2000)
Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet
, vol.8
, pp. 837-845
-
-
Cailloux, F.1
Gauthier-Barichard, F.2
Mimault, C.3
Isabelle, V.4
Courtois, V.5
Giraud, G.6
Dastugue, B.7
Boespflug-Tanguy, O.8
-
25
-
-
0029863607
-
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia
-
Cambi F., Tang X.-M., Cordray P., Fain P.R., Keppen L.D., and Barker D.F. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. Neurology 46 (1996) 1112-1117
-
(1996)
Neurology
, vol.46
, pp. 1112-1117
-
-
Cambi, F.1
Tang, X.-M.2
Cordray, P.3
Fain, P.R.4
Keppen, L.D.5
Barker, D.F.6
-
26
-
-
10744222725
-
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
-
Casali C., Valente E.M., Bertini E., Montagna G., Criscuolo C., De Michele G., Villanova M., Damiano M., Pierallini A., Brancati F., Scarano V., Tessa A., Cricchi F., Grieco G.S., Muglia M., Carella M., Martini B., Rossi A., Amabile G.A., Nappi G., Filla A., Dallapiccola B., and Santorelli F.M. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 62 (2004) 262-268
-
(2004)
Neurology
, vol.62
, pp. 262-268
-
-
Casali, C.1
Valente, E.M.2
Bertini, E.3
Montagna, G.4
Criscuolo, C.5
De Michele, G.6
Villanova, M.7
Damiano, M.8
Pierallini, A.9
Brancati, F.10
Scarano, V.11
Tessa, A.12
Cricchi, F.13
Grieco, G.S.14
Muglia, M.15
Carella, M.16
Martini, B.17
Rossi, A.18
Amabile, G.A.19
Nappi, G.20
Filla, A.21
Dallapiccola, B.22
Santorelli, F.M.23
more..
-
27
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G., De Fusco M., Ciarmatori S., Zeviani M., Mora M., Fernandez P., De Michele G., Filla A., Cocozza S., Marconi R., Durr A., Fontaine B., and Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93 (1998) 973-983
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernandez, P.6
De Michele, G.7
Filla, A.8
Cocozza, S.9
Marconi, R.10
Durr, A.11
Fontaine, B.12
Ballabio, A.13
-
28
-
-
0033678716
-
Analysis of the L1-deficient mouse phenotype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidance
-
Castellani V., Chedotal A., Schachner M., Faivre-Sarrailh C., and Rougon G. Analysis of the L1-deficient mouse phenotype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidance. Neuron 27 (2000) 237-249
-
(2000)
Neuron
, vol.27
, pp. 237-249
-
-
Castellani, V.1
Chedotal, A.2
Schachner, M.3
Faivre-Sarrailh, C.4
Rougon, G.5
-
29
-
-
0037231374
-
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus
-
Charvin D., Cifuentes-Diaz C., Fonknechten N., Joshi V., Hazan J., Melki J., and Betuing S. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet 12 (2003) 71-78
-
(2003)
Hum Mol Genet
, vol.12
, pp. 71-78
-
-
Charvin, D.1
Cifuentes-Diaz, C.2
Fonknechten, N.3
Joshi, V.4
Hazan, J.5
Melki, J.6
Betuing, S.7
-
30
-
-
4143143075
-
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene
-
Chinnery P.F., Keers S.M., Holden M.J., Ramesh V., and Dalton A. Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. Neurology 63 (2004) 710-712
-
(2004)
Neurology
, vol.63
, pp. 710-712
-
-
Chinnery, P.F.1
Keers, S.M.2
Holden, M.J.3
Ramesh, V.4
Dalton, A.5
-
31
-
-
0037381932
-
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
-
Ciccarelli F.D., Proukakis C., Patel H., Cross H., Azam S., Patton M.A., Bork P., and Crosby A.H. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics 81 (2003) 437-441
-
(2003)
Genomics
, vol.81
, pp. 437-441
-
-
Ciccarelli, F.D.1
Proukakis, C.2
Patel, H.3
Cross, H.4
Azam, S.5
Patton, M.A.6
Bork, P.7
Crosby, A.H.8
-
32
-
-
0034605364
-
Novel syndromic form of X-linked complicated spastic paraplegia
-
Claes S., Devriendt K., Van Goethem G., Roelen L., Meireleire J., Raeymaekers P., Cassiman J.J., and Fryns J.P. Novel syndromic form of X-linked complicated spastic paraplegia. Am J Med Genet 94 (2000) 1-4
-
(2000)
Am J Med Genet
, vol.94
, pp. 1-4
-
-
Claes, S.1
Devriendt, K.2
Van Goethem, G.3
Roelen, L.4
Meireleire, J.5
Raeymaekers, P.6
Cassiman, J.J.7
Fryns, J.P.8
-
33
-
-
0031984128
-
Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1
-
Cohen N.R., Taylor J.S., Scott L.B., Guillery R.W., Soriano P., and Furley A.J. Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1. Curr Biol 8 (1997) 26-33
-
(1997)
Curr Biol
, vol.8
, pp. 26-33
-
-
Cohen, N.R.1
Taylor, J.S.2
Scott, L.B.3
Guillery, R.W.4
Soriano, P.5
Furley, A.J.6
-
34
-
-
0034657997
-
Identification and characterization of YME1L1, a novel paraplegin-related gene
-
Coppola M., Pizzigoni A., Banfi S., Bassi M.T., Casari G., and Incerti B. Identification and characterization of YME1L1, a novel paraplegin-related gene. Genomics 66 (2000) 48-54
-
(2000)
Genomics
, vol.66
, pp. 48-54
-
-
Coppola, M.1
Pizzigoni, A.2
Banfi, S.3
Bassi, M.T.4
Casari, G.5
Incerti, B.6
-
35
-
-
0014044833
-
The Mast syndrome: a recessively inherited form of pre-senile dementia with motor disturbances
-
Cross H.E., and McKusick V.A. The Mast syndrome: a recessively inherited form of pre-senile dementia with motor disturbances. Arch Neurol 16 (1967) 1-13
-
(1967)
Arch Neurol
, vol.16
, pp. 1-13
-
-
Cross, H.E.1
McKusick, V.A.2
-
36
-
-
0030666794
-
Disruption of the mouse L1 gene leads to malformations of the nervous system
-
Dahme M., Bartsch U., Martini R., Anliker B., Schachner M., and Mantei N. Disruption of the mouse L1 gene leads to malformations of the nervous system. Nat Genet 17 (1997) 346-349
-
(1997)
Nat Genet
, vol.17
, pp. 346-349
-
-
Dahme, M.1
Bartsch, U.2
Martini, R.3
Anliker, B.4
Schachner, M.5
Mantei, N.6
-
37
-
-
0041429541
-
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation
-
Dalpozzo F., Rossetto M.G., Boaretto F., Sartori E., Mostacciuolo M.L., Daga A., Bassi M.T., and Martinuzzi A. Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. Neurology 61 (2003) 580-581
-
(2003)
Neurology
, vol.61
, pp. 580-581
-
-
Dalpozzo, F.1
Rossetto, M.G.2
Boaretto, F.3
Sartori, E.4
Mostacciuolo, M.L.5
Daga, A.6
Bassi, M.T.7
Martinuzzi, A.8
-
38
-
-
2942564556
-
Incomplete penetrance in an SPG3Alinked family with a new mutation in the atlastin gene
-
D'Amico A., Tessa A., Sabino A., Bertini E., Santorelli F.M., and Servidei S. Incomplete penetrance in an SPG3Alinked family with a new mutation in the atlastin gene. Neurology 62 (2004) 2138-2139
-
(2004)
Neurology
, vol.62
, pp. 2138-2139
-
-
D'Amico, A.1
Tessa, A.2
Sabino, A.3
Bertini, E.4
Santorelli, F.M.5
Servidei, S.6
-
40
-
-
0035022939
-
Novel mutation of the Spastin gene in familial spastic paraplegia
-
De Bantel A., McWilliams S., Auysh D., Echol C., Sambuughin N., and Sivakumar K. Novel mutation of the Spastin gene in familial spastic paraplegia. Clin Genet 59 (2001) 364-365
-
(2001)
Clin Genet
, vol.59
, pp. 364-365
-
-
De Bantel, A.1
McWilliams, S.2
Auysh, D.3
Echol, C.4
Sambuughin, N.5
Sivakumar, K.6
-
41
-
-
0037899137
-
NGF signaling in sensory neurons: evidence that early endosomes carry NGF retrograde signals
-
Delcroix J.D., Valletta J.S., Wu C., Hunt S.J., Kowal A.S., and Mobley W.C. NGF signaling in sensory neurons: evidence that early endosomes carry NGF retrograde signals. Neuron 39 (2003) 69-84
-
(2003)
Neuron
, vol.39
, pp. 69-84
-
-
Delcroix, J.D.1
Valletta, J.S.2
Wu, C.3
Hunt, S.J.4
Kowal, A.S.5
Mobley, W.C.6
-
42
-
-
9444232285
-
The extent of axonal loss in the long tracts in hereditary spastic paraplegia
-
Deluca G.C., Ebers G.C., and Esiri M.M. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol 30 (2004) 576-584
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 576-584
-
-
Deluca, G.C.1
Ebers, G.C.2
Esiri, M.M.3
-
43
-
-
0033564746
-
Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice
-
Demyanenko G.P., Tsai A.Y., and Maness P.F. Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice. J Neurosci 19 (1999) 4907-4920
-
(1999)
J Neurosci
, vol.19
, pp. 4907-4920
-
-
Demyanenko, G.P.1
Tsai, A.Y.2
Maness, P.F.3
-
44
-
-
10044286171
-
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
-
Durr A., Camuzat A., Colin E., Tallaksen C., Hannequin D., Coutinho P., Fontaine B., Rossi A., Gil R., Rousselle C., Ruberg M., Stevanin G., and Brice A. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 61 (2004) 1867-1872
-
(2004)
Arch Neurol
, vol.61
, pp. 1867-1872
-
-
Durr, A.1
Camuzat, A.2
Colin, E.3
Tallaksen, C.4
Hannequin, D.5
Coutinho, P.6
Fontaine, B.7
Rossi, A.8
Gil, R.9
Rousselle, C.10
Ruberg, M.11
Stevanin, G.12
Brice, A.13
-
45
-
-
3142674927
-
Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia
-
Edgar J.M., McLaughlin M., Yool D., Zhang S.C., Fowler J.H., Montague P., Barrie J.A., McCulloch M.C., Duncan I.D., Garbern J., Nave K.A., and Griffiths I.R. Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. J Cell Biol 166 (2004) 121-131
-
(2004)
J Cell Biol
, vol.166
, pp. 121-131
-
-
Edgar, J.M.1
McLaughlin, M.2
Yool, D.3
Zhang, S.C.4
Fowler, J.H.5
Montague, P.6
Barrie, J.A.7
McCulloch, M.C.8
Duncan, I.D.9
Garbern, J.10
Nave, K.A.11
Griffiths, I.R.12
-
46
-
-
10044258734
-
Beginning to understand hereditary spastic paraplegia atlastin
-
Elliott J.L. Beginning to understand hereditary spastic paraplegia atlastin. Arch Neurol 61 (2004) 1842-1843
-
(2004)
Arch Neurol
, vol.61
, pp. 1842-1843
-
-
Elliott, J.L.1
-
47
-
-
0037081740
-
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
-
Errico A., Ballabio A., and Rugarli E.I. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11 (2002) 153-163
-
(2002)
Hum Mol Genet
, vol.11
, pp. 153-163
-
-
Errico, A.1
Ballabio, A.2
Rugarli, E.I.3
-
48
-
-
5744240094
-
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon
-
Errico A., Claudiani P., D'Addio M., and Rugarli E.I. Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon. Hum Mol Genet 13 (2004) 2121-2132
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2121-2132
-
-
Errico, A.1
Claudiani, P.2
D'Addio, M.3
Rugarli, E.I.4
-
49
-
-
13944283245
-
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing
-
Evans K.J., Gomes E.R., Reisenweber S.M., Gundersen G.G., and Lauring B.P. Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. J Cell Biol 168 (2005) 599-606
-
(2005)
J Cell Biol
, vol.168
, pp. 599-606
-
-
Evans, K.J.1
Gomes, E.R.2
Reisenweber, S.M.3
Gundersen, G.G.4
Lauring, B.P.5
-
50
-
-
5144223187
-
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis
-
Falco M., Scuderi C., Musumeci S., Sturnio M., Neri M., Bigoni S., Caniatti L., and Fichera M. Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. Neuromuscul Disord 14 (2004) 750-753
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 750-753
-
-
Falco, M.1
Scuderi, C.2
Musumeci, S.3
Sturnio, M.4
Neri, M.5
Bigoni, S.6
Caniatti, L.7
Fichera, M.8
-
51
-
-
1342310772
-
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
-
Ferreirinha F., Quattrini A., Pirozzi M., Valsecchi V., Dina G., Broccoli V., Auricchio A., Piemonte F., Tozzi G., Gaeta L., Casari G., Ballabio A., and Rugarli E.I. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113 (2004) 231-242
-
(2004)
J Clin Invest
, vol.113
, pp. 231-242
-
-
Ferreirinha, F.1
Quattrini, A.2
Pirozzi, M.3
Valsecchi, V.4
Dina, G.5
Broccoli, V.6
Auricchio, A.7
Piemonte, F.8
Tozzi, G.9
Gaeta, L.10
Casari, G.11
Ballabio, A.12
Rugarli, E.I.13
-
52
-
-
4644258352
-
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
-
Fichera M., Lo Giudice M., Falco M., Sturnio M., Amata S., Calabrese O., Bigoni S., Calzolari E., and Neri M. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 63 (2004) 1108-1110
-
(2004)
Neurology
, vol.63
, pp. 1108-1110
-
-
Fichera, M.1
Lo Giudice, M.2
Falco, M.3
Sturnio, M.4
Amata, S.5
Calabrese, O.6
Bigoni, S.7
Calzolari, E.8
Neri, M.9
-
53
-
-
0026736715
-
Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy
-
Filla A., DeMichele G., Marconi R., Bucci L., Carillo C., Castellano A.E., Iorio L., Kniahynicki C., Rossi F., and Campanella G. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 239 (1992) 351-353
-
(1992)
J Neurol
, vol.239
, pp. 351-353
-
-
Filla, A.1
DeMichele, G.2
Marconi, R.3
Bucci, L.4
Carillo, C.5
Castellano, A.E.6
Iorio, L.7
Kniahynicki, C.8
Rossi, F.9
Campanella, G.10
-
54
-
-
67649371836
-
Reply to Bohan and Azizi
-
Fink J.K. Reply to Bohan and Azizi. Arch Neurol 61 (2004) 1471
-
(2004)
Arch Neurol
, vol.61
, pp. 1471
-
-
Fink, J.K.1
-
55
-
-
0034163576
-
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
-
Fonknechten N., Mavel D., Byrne P., Davoine C.S., Cruaud C., Boentsch D., Samson D., Coutinho P., Hutchinson M., McMonagle P., Burgunder J.M., Tartaglione A., Heinzlef O., Feki I., Deufel T., Parfrey N., Brice A., Fontaine B., Prud'homme J.F., Weissenbach J., Durr A., and Hazan J. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9 (2000) 637-644
-
(2000)
Hum Mol Genet
, vol.9
, pp. 637-644
-
-
Fonknechten, N.1
Mavel, D.2
Byrne, P.3
Davoine, C.S.4
Cruaud, C.5
Boentsch, D.6
Samson, D.7
Coutinho, P.8
Hutchinson, M.9
McMonagle, P.10
Burgunder, J.M.11
Tartaglione, A.12
Heinzlef, O.13
Feki, I.14
Deufel, T.15
Parfrey, N.16
Brice, A.17
Fontaine, B.18
Prud'homme, J.F.19
Weissenbach, J.20
Durr, A.21
Hazan, J.22
more..
-
56
-
-
0033912567
-
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
-
Fontaine B., Davoine C.S., Durr A., Paternotte C., Feki I., Weissenbach J., Hazan J., and Brice A. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 66 (2000) 702-707
-
(2000)
Am J Hum Genet
, vol.66
, pp. 702-707
-
-
Fontaine, B.1
Davoine, C.S.2
Durr, A.3
Paternotte, C.4
Feki, I.5
Weissenbach, J.6
Hazan, J.7
Brice, A.8
-
57
-
-
0028876309
-
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one s
-
Fransen E., Lemmon V., Van Camp G., Vits L., Coucke P., and Willems P.J. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one s. Eur J Hum Genet 3 (1995) 273-284
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 273-284
-
-
Fransen, E.1
Lemmon, V.2
Van Camp, G.3
Vits, L.4
Coucke, P.5
Willems, P.J.6
-
58
-
-
7144251191
-
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns
-
Fransen E., D'Hooge R., Van Camp G., Verhoye M., Sijbers J., Reyniers E., Soriano P., Kamiguchi H., Willemsen R., Koekkoek S.K., De Zeeuw C.I., De Deyn P.P., Van der Linden A., Lemmon V., Kooy R.F., and Willems P.J. L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Hum Mol Genet 7 (1998) 999-1099
-
(1998)
Hum Mol Genet
, vol.7
, pp. 999-1099
-
-
Fransen, E.1
D'Hooge, R.2
Van Camp, G.3
Verhoye, M.4
Sijbers, J.5
Reyniers, E.6
Soriano, P.7
Kamiguchi, H.8
Willemsen, R.9
Koekkoek, S.K.10
De Zeeuw, C.I.11
De Deyn, P.P.12
Van der Linden, A.13
Lemmon, V.14
Kooy, R.F.15
Willems, P.J.16
-
59
-
-
0030769418
-
Proteolipid protein is necessary in peripheral as well as central myelin
-
Garbern J.Y., Cambi F., Tang X.M., Sima A.A., Vallat J.M., Bosch E.P., Lewis R., Shy M., Sohi J., Kraft G., Chen K.L., Joshi I., Leonard D.G., Johnson W., Raskind W., Dlouhy S.R., Pratt V., Hodes M.E., Bird T., and Kamholz J. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 19 (1997) 205-218
-
(1997)
Neuron
, vol.19
, pp. 205-218
-
-
Garbern, J.Y.1
Cambi, F.2
Tang, X.M.3
Sima, A.A.4
Vallat, J.M.5
Bosch, E.P.6
Lewis, R.7
Shy, M.8
Sohi, J.9
Kraft, G.10
Chen, K.L.11
Joshi, I.12
Leonard, D.G.13
Johnson, W.14
Raskind, W.15
Dlouhy, S.R.16
Pratt, V.17
Hodes, M.E.18
Bird, T.19
Kamholz, J.20
more..
-
60
-
-
0036189424
-
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelinationand inflammation
-
Garbern J.Y., Yool D.A., Moore G.J., Wilds I.B., Faulk M.W., Klugmann M., Nave K.A., Sistermans E.A., van der Knaap M.S., Bird T.D., Shy M.E., Kamholz J.A., and Griffiths I.R. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelinationand inflammation. Brain 125 (2002) 551-561
-
(2002)
Brain
, vol.125
, pp. 551-561
-
-
Garbern, J.Y.1
Yool, D.A.2
Moore, G.J.3
Wilds, I.B.4
Faulk, M.W.5
Klugmann, M.6
Nave, K.A.7
Sistermans, E.A.8
van der Knaap, M.S.9
Bird, T.D.10
Shy, M.E.11
Kamholz, J.A.12
Griffiths, I.R.13
-
61
-
-
0024519130
-
X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype
-
Goldblatt J., Ballo R., Sachs B., and Moosa A. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin Genet 35 (1989) 116-120
-
(1989)
Clin Genet
, vol.35
, pp. 116-120
-
-
Goldblatt, J.1
Ballo, R.2
Sachs, B.3
Moosa, A.4
-
62
-
-
0035912767
-
Kinesin molecular motors: transport pathways, receptors and human disease
-
Goldstein L.S.B. Kinesin molecular motors: transport pathways, receptors and human disease. Proc Natl Acad Sci (USA) 98 (2001) 6999-7003
-
(2001)
Proc Natl Acad Sci (USA)
, vol.98
, pp. 6999-7003
-
-
Goldstein, L.S.B.1
-
63
-
-
0034078008
-
Microtubule-based transport systems in neurons: the role of kinesins and dynamins
-
Goldstein L.S.B., and Yang Z. Microtubule-based transport systems in neurons: the role of kinesins and dynamins. Annu Rev Neurosci 23 (2000) 39-71
-
(2000)
Annu Rev Neurosci
, vol.23
, pp. 39-71
-
-
Goldstein, L.S.B.1
Yang, Z.2
-
64
-
-
0032486428
-
Axonal swellings and degeneration in mice lacking the major proteolipid of myelin
-
Griffiths I., Kluggmann M., Anderson T., Yool D., Thomson C., Schwabb M.H., Schneider A., Zimmermann F., McCulloch M., Nadon N., and Nave K.A. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 280 (1998) 1610-1613
-
(1998)
Science
, vol.280
, pp. 1610-1613
-
-
Griffiths, I.1
Kluggmann, M.2
Anderson, T.3
Yool, D.4
Thomson, C.5
Schwabb, M.H.6
Schneider, A.7
Zimmermann, F.8
McCulloch, M.9
Nadon, N.10
Nave, K.A.11
-
65
-
-
0036241765
-
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
-
Hansen J.J., Durr A., Cournu-Rebeix I., Georgopoulos C., Ang D., Nielsen M.N., Davoine C.S., Brice A., Fontaine B., Gregersen N., and Bross P. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 70 (2002) 1328-1332
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1328-1332
-
-
Hansen, J.J.1
Durr, A.2
Cournu-Rebeix, I.3
Georgopoulos, C.4
Ang, D.5
Nielsen, M.N.6
Davoine, C.S.7
Brice, A.8
Fontaine, B.9
Gregersen, N.10
Bross, P.11
-
66
-
-
0019777963
-
Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families
-
Harding A.E. Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 44 (1981) 871-883
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 871-883
-
-
Harding, A.E.1
-
67
-
-
0032721512
-
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
-
Hazan J., Fonknechten N., Mavel D., Paternotte C., Samson D., Artiguenave F., Davoine C.S., Cruaud C., Durr A., Wincker P., Brottier P., Cattolico L., Barbe V., Burgunder J.M., Prud'homme J.F., Brice A., Fontaine B., Heilig B., and Weissenbach J. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23 (1999) 296-303
-
(1999)
Nat Genet
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
Paternotte, C.4
Samson, D.5
Artiguenave, F.6
Davoine, C.S.7
Cruaud, C.8
Durr, A.9
Wincker, P.10
Brottier, P.11
Cattolico, L.12
Barbe, V.13
Burgunder, J.M.14
Prud'homme, J.F.15
Brice, A.16
Fontaine, B.17
Heilig, B.18
Weissenbach, J.19
-
68
-
-
0033551507
-
Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
-
Hedera P., DiMauro S., Bonilla E., Wald J., Eldevik O.P., and Fink J.K. Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology 53 (1999) 44-50
-
(1999)
Neurology
, vol.53
, pp. 44-50
-
-
Hedera, P.1
DiMauro, S.2
Bonilla, E.3
Wald, J.4
Eldevik, O.P.5
Fink, J.K.6
-
69
-
-
0034727613
-
Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia
-
Hedera P., DiMauro S., Bonilla E., Wald J.J., and Fink J.K. Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia. Neurology 55 (2000) 1591-1592
-
(2000)
Neurology
, vol.55
, pp. 1591-1592
-
-
Hedera, P.1
DiMauro, S.2
Bonilla, E.3
Wald, J.J.4
Fink, J.K.5
-
70
-
-
5344275885
-
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
-
Hedera P., Fenichel G.M., Blair M., and Haines J.L. Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. Arch Neurol 61 (2004) 1600-1603
-
(2004)
Arch Neurol
, vol.61
, pp. 1600-1603
-
-
Hedera, P.1
Fenichel, G.M.2
Blair, M.3
Haines, J.L.4
-
71
-
-
0031960716
-
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p
-
Heinzlef O., Paternotte C., Mahieux F., Prud'homme J.F., Dien J., Madigand M., Pouget J., Weissenbach J., Roullet E., and Hazan J. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 35 (1998) 89-93
-
(1998)
J Med Genet
, vol.35
, pp. 89-93
-
-
Heinzlef, O.1
Paternotte, C.2
Mahieux, F.3
Prud'homme, J.F.4
Dien, J.5
Madigand, M.6
Pouget, J.7
Weissenbach, J.8
Roullet, E.9
Hazan, J.10
-
72
-
-
0028145138
-
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
-
Hentati A., Pericak-Vance M.A., Hung W.Y., Belal S., Laing N., Boustany R.M., Hentati F., Ben Hamida M., and Siddique T. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 3 (1994) 1263-1267
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1263-1267
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Hung, W.Y.3
Belal, S.4
Laing, N.5
Boustany, R.M.6
Hentati, F.7
Ben Hamida, M.8
Siddique, T.9
-
73
-
-
0034649471
-
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
-
Hentati A., Deng H.X., Zhai H., Chen W., Yang Y., Hung W.Y., Azim A.C., Bohlega S., Tandan R., Warner C., Laing N.G., Cambi F., Mitsumoto H., Roos R.P., Boustany R.M., Ben Hamida M., Hentati F., and Siddique T. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology 55 (2000) 1388-1390
-
(2000)
Neurology
, vol.55
, pp. 1388-1390
-
-
Hentati, A.1
Deng, H.X.2
Zhai, H.3
Chen, W.4
Yang, Y.5
Hung, W.Y.6
Azim, A.C.7
Bohlega, S.8
Tandan, R.9
Warner, C.10
Laing, N.G.11
Cambi, F.12
Mitsumoto, H.13
Roos, R.P.14
Boustany, R.M.15
Ben Hamida, M.16
Hentati, F.17
Siddique, T.18
-
74
-
-
0035849566
-
An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia
-
Higgins J.J., Loveless J.M., Goswami S., Nee L.E., Cozzo C., De Biase A., and Rosen D.R. An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia. Neurology 56 (2001) 1482-1485
-
(2001)
Neurology
, vol.56
, pp. 1482-1485
-
-
Higgins, J.J.1
Loveless, J.M.2
Goswami, S.3
Nee, L.E.4
Cozzo, C.5
De Biase, A.6
Rosen, D.R.7
-
75
-
-
0037168804
-
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
-
Hodgkinson C.A., Bohlega S., Abu-Amero S.N., Cupler E., Kambouris M., Meyer B.F., and Bharucha V.A. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59 (2002) 1905-1909
-
(2002)
Neurology
, vol.59
, pp. 1905-1909
-
-
Hodgkinson, C.A.1
Bohlega, S.2
Abu-Amero, S.N.3
Cupler, E.4
Kambouris, M.5
Meyer, B.F.6
Bharucha, V.A.7
-
76
-
-
0035826895
-
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q
-
Hughes C.A., Byrne P.C., Webb S., McMonagle P., Patterson V., Hutchinson M., and Parfrey N.A. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 56 (2001) 1230-1233
-
(2001)
Neurology
, vol.56
, pp. 1230-1233
-
-
Hughes, C.A.1
Byrne, P.C.2
Webb, S.3
McMonagle, P.4
Patterson, V.5
Hutchinson, M.6
Parfrey, N.A.7
-
77
-
-
0026684098
-
Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells
-
Ikenaka K., Kagawa T., and Mikoshiba K. Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and in nonglial cells. J Neurochem 58 (1992) 2248-2253
-
(1992)
J Neurochem
, vol.58
, pp. 2248-2253
-
-
Ikenaka, K.1
Kagawa, T.2
Mikoshiba, K.3
-
78
-
-
15444363703
-
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
-
Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6 (2005) 1-16
-
(2005)
Neurogenetics
, vol.6
, pp. 1-16
-
-
Inoue, K.1
-
79
-
-
0032957881
-
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations
-
Inoue K., Osaka H., Imaizumi K., Nezu A., Takanashi J., Arii J., Murayama K., Ono J., Kikawa Y., Mito T., Shaffer L.G., and Lupski J.R. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol 45 (1999) 624-632
-
(1999)
Ann Neurol
, vol.45
, pp. 624-632
-
-
Inoue, K.1
Osaka, H.2
Imaizumi, K.3
Nezu, A.4
Takanashi, J.5
Arii, J.6
Murayama, K.7
Ono, J.8
Kikawa, Y.9
Mito, T.10
Shaffer, L.G.11
Lupski, J.R.12
-
80
-
-
0035202995
-
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement
-
Inoue K., Tanaka H., Scaglia F., Araki A., Shaffer L.G., and Lupski J.R. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol 50: (2001) 747-754
-
(2001)
Ann Neurol
, vol.50
, pp. 747-754
-
-
Inoue, K.1
Tanaka, H.2
Scaglia, F.3
Araki, A.4
Shaffer, L.G.5
Lupski, J.R.6
-
81
-
-
19044366773
-
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
-
Inoue K., Osaka H., Thurston V.C., Clarke J.T., Yoneyama A., Rosenbarker L., Bird T.D., Hodes M.E., Shaffer L.G., and Lupski J.R. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet 71 (2002) 838-853
-
(2002)
Am J Hum Genet
, vol.71
, pp. 838-853
-
-
Inoue, K.1
Osaka, H.2
Thurston, V.C.3
Clarke, J.T.4
Yoneyama, A.5
Rosenbarker, L.6
Bird, T.D.7
Hodes, M.E.8
Shaffer, L.G.9
Lupski, J.R.10
-
82
-
-
12944283141
-
Large deletion involving the 5′-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia
-
Iwanaga H., Tsujino A., Shirabe S., Eguchi H., Fukushima N., Niikawa N., Yoshiura K.I., and Eguchi K. Large deletion involving the 5′-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia. Am J Med Genet A 133A (2005) 13-17
-
(2005)
Am J Med Genet A
, vol.133 A
, pp. 13-17
-
-
Iwanaga, H.1
Tsujino, A.2
Shirabe, S.3
Eguchi, H.4
Fukushima, N.5
Niikawa, N.6
Yoshiura, K.I.7
Eguchi, K.8
-
83
-
-
0002397825
-
A sex-linked recessive form of spastic paraplegia
-
Johnson A.W., and McKusick V.A. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet 14 (1962) 83-94
-
(1962)
Am J Hum Genet
, vol.14
, pp. 83-94
-
-
Johnson, A.W.1
McKusick, V.A.2
-
84
-
-
0024513187
-
Immunological localization of cell adhesion molecule L1 in developing rat pyramidal tract
-
Joosten E.A., and Gribnau A.A. Immunological localization of cell adhesion molecule L1 in developing rat pyramidal tract. Neurosci Lett 100 (1998) 94-98
-
(1998)
Neurosci Lett
, vol.100
, pp. 94-98
-
-
Joosten, E.A.1
Gribnau, A.A.2
-
85
-
-
0028241952
-
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
-
Jouet M., Rosenthal A., Armstrong G., MacFarlane J., Stevenson R., Paterson J., Metzenberg A., Ionasecu V., Temple K., and Kenwrick S. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7 (1994) 402-407
-
(1994)
Nat Genet
, vol.7
, pp. 402-407
-
-
Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
MacFarlane, J.4
Stevenson, R.5
Paterson, J.6
Metzenberg, A.7
Ionasecu, V.8
Temple, K.9
Kenwrick, S.10
-
86
-
-
0022875854
-
Linkage studies of X-linked recessive spastic paraplegia using DNA probes
-
Kenwrick S., Ionasescu V., Ionasescu G., Searby C., King A., Dubowitz M., and Davies K.E. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet 73 (1986) 264-266
-
(1986)
Hum Genet
, vol.73
, pp. 264-266
-
-
Kenwrick, S.1
Ionasescu, V.2
Ionasescu, G.3
Searby, C.4
King, A.5
Dubowitz, M.6
Davies, K.E.7
-
87
-
-
0023634009
-
Etiological heterogeneity in X-linked spastic paraplegia
-
Keppen L.D., Leppert M.F., O'Connel P., Nakamura Y., Stauffer D., Lathrop M., Lalouel J.-M., and White R. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41 (1987) 933-943
-
(1987)
Am J Hum Genet
, vol.41
, pp. 933-943
-
-
Keppen, L.D.1
Leppert, M.F.2
O'Connel, P.3
Nakamura, Y.4
Stauffer, D.5
Lathrop, M.6
Lalouel, J.-M.7
White, R.8
-
88
-
-
18544368075
-
A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
-
Ki C.S., Lee W.Y., Han do H., Sung D.H., Lee K.B., Lee K.A., Cho S.S., Cho S., Hwang H., Sohn K.M., Choi Y.J., and Kim J.W. A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. J Hum Genet 47 (2002) 473-477
-
(2002)
J Hum Genet
, vol.47
, pp. 473-477
-
-
Ki, C.S.1
Lee, W.Y.2
Han do, H.3
Sung, D.H.4
Lee, K.B.5
Lee, K.A.6
Cho, S.S.7
Cho, S.8
Hwang, H.9
Sohn, K.M.10
Choi, Y.J.11
Kim, J.W.12
-
89
-
-
0031037761
-
Assembly of CNS myelin in the absence of proteolipid protein
-
Kluggmann M.M.H.S., Puhlhofer A., Schneider A., Zimmermann F., Griffiths I.R., and Nave K.-A. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 18 (1997) 59-70
-
(1997)
Neuron
, vol.18
, pp. 59-70
-
-
Kluggmann, M.M.H.S.1
Puhlhofer, A.2
Schneider, A.3
Zimmermann, F.4
Griffiths, I.R.5
Nave, K.-A.6
-
90
-
-
67649310764
-
Hereditary spinal spastic paraplegia (Strumpell-Lorrain's disease)
-
Kramer W. Hereditary spinal spastic paraplegia (Strumpell-Lorrain's disease). Neuropathol Appl Neurobiol 8 (1977) 488-489
-
(1977)
Neuropathol Appl Neurobiol
, vol.8
, pp. 488-489
-
-
Kramer, W.1
-
91
-
-
0030475162
-
Regulated protein degradation in mitochondria
-
Langer T., and Neupert W. Regulated protein degradation in mitochondria. Experimentia 52 (1996) 1069-1076
-
(1996)
Experimentia
, vol.52
, pp. 1069-1076
-
-
Langer, T.1
Neupert, W.2
-
92
-
-
0028965481
-
Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability
-
Leone M., Bottachi E., D'Alessandro G., and Kustermann S. Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability. Acta Neurol Scand 91 (1995) 183-187
-
(1995)
Acta Neurol Scand
, vol.91
, pp. 183-187
-
-
Leone, M.1
Bottachi, E.2
D'Alessandro, G.3
Kustermann, S.4
-
93
-
-
0033782943
-
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
-
Lindsey J.C., Lusher M.E., McDermott C.J., White K.D., Reid E., Rubinsztein D.C., Bashir R., Hazan J., Shaw P.J., and Bushby K.M. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet 37 (2000) 759-765
-
(2000)
J Med Genet
, vol.37
, pp. 759-765
-
-
Lindsey, J.C.1
Lusher, M.E.2
McDermott, C.J.3
White, K.D.4
Reid, E.5
Rubinsztein, D.C.6
Bashir, R.7
Hazan, J.8
Shaw, P.J.9
Bushby, K.M.10
-
94
-
-
0019507439
-
Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs
-
Lison M., Kornbrut B., Feinstein A., Hiss Y., Boichis H., and Goodman R.M. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. Am J Med Genet 9 (1981) 351-357
-
(1981)
Am J Med Genet
, vol.9
, pp. 351-357
-
-
Lison, M.1
Kornbrut, B.2
Feinstein, A.3
Hiss, Y.4
Boichis, H.5
Goodman, R.M.6
-
95
-
-
0033776571
-
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2
-
Lo Nigro C., Cusano R., Scaranari M., Cinti R., Forabosco P., Morra V.B., De Michele G., Santoro L., Davies S., Hurst J., Devoto M., Ravazzolo R., and Seri M. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. Eur J Hum Genet 8 (2000) 777-782
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 777-782
-
-
Lo Nigro, C.1
Cusano, R.2
Scaranari, M.3
Cinti, R.4
Forabosco, P.5
Morra, V.B.6
De Michele, G.7
Santoro, L.8
Davies, S.9
Hurst, J.10
Devoto, M.11
Ravazzolo, R.12
Seri, M.13
-
96
-
-
0033937733
-
The role of mitochondria in the pathogenesis of neurodegenerative disorders
-
Manfredi G., and Beal F. The role of mitochondria in the pathogenesis of neurodegenerative disorders. Brain Pathol 10 (2000) 462-472
-
(2000)
Brain Pathol
, vol.10
, pp. 462-472
-
-
Manfredi, G.1
Beal, F.2
-
97
-
-
0035957066
-
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
-
McDermott C.J., Dayaratne R.K., Tomkins J., Lusher M.E., Lindsey J.C., Johnson M.A., Casari G., Turnbull D.M., Bushby K., and Shaw P.J. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 56 (2001) 467-471
-
(2001)
Neurology
, vol.56
, pp. 467-471
-
-
McDermott, C.J.1
Dayaratne, R.K.2
Tomkins, J.3
Lusher, M.E.4
Lindsey, J.C.5
Johnson, M.A.6
Casari, G.7
Turnbull, D.M.8
Bushby, K.9
Shaw, P.J.10
-
98
-
-
0344664376
-
Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation
-
McDermott C.J., Grierson A.J., Wood J.D., Bingley M., Wharton S.B., Bushby K.M., and Shaw P.J. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol 54 (2003) 748-759
-
(2003)
Ann Neurol
, vol.54
, pp. 748-759
-
-
McDermott, C.J.1
Grierson, A.J.2
Wood, J.D.3
Bingley, M.4
Wharton, S.B.5
Bushby, K.M.6
Shaw, P.J.7
-
99
-
-
0344837697
-
Investigation of mitochondrial function in hereditary spastic paraparesis
-
McDermott C.J., Taylor R.W., Hayes C., Johnson M., Bushby K.M., Turnbull D.M., and Shaw P.J. Investigation of mitochondrial function in hereditary spastic paraparesis. Neuroreport 14 (2003) 485-488
-
(2003)
Neuroreport
, vol.14
, pp. 485-488
-
-
McDermott, C.J.1
Taylor, R.W.2
Hayes, C.3
Johnson, M.4
Bushby, K.M.5
Turnbull, D.M.6
Shaw, P.J.7
-
100
-
-
0034719042
-
Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations
-
McMonagle P., Byrne P.C., Fitzgerald B., Webb S., Parfrey N.A., and Hutchinson M. Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations. Neurology 55 (2000) 1794-1800
-
(2000)
Neurology
, vol.55
, pp. 1794-1800
-
-
McMonagle, P.1
Byrne, P.C.2
Fitzgerald, B.3
Webb, S.4
Parfrey, N.A.5
Hutchinson, M.6
-
101
-
-
1042299828
-
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
-
McMonagle P., Byrne P., and Hutchinson M. Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology 62 (2004) 407-410
-
(2004)
Neurology
, vol.62
, pp. 407-410
-
-
McMonagle, P.1
Byrne, P.2
Hutchinson, M.3
-
102
-
-
0035208727
-
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis intwo affected siblings and epilepsy in other affected family members
-
Mead S.H., Proukakis C., Wood N., Crosby A.H., Plant G.T., and Warner T.T. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis intwo affected siblings and epilepsy in other affected family members. J Neurol Neurosurg Psychiatry 71 (2001) 788-791
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.71
, pp. 788-791
-
-
Mead, S.H.1
Proukakis, C.2
Wood, N.3
Crosby, A.H.4
Plant, G.T.5
Warner, T.T.6
-
103
-
-
0036483811
-
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia
-
Meijer I.A., Hand C.K., Cossette P., Figlewicz D.A., and Rouleau G.A. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 59 (2002) 281-286
-
(2002)
Arch Neurol
, vol.59
, pp. 281-286
-
-
Meijer, I.A.1
Hand, C.K.2
Cossette, P.3
Figlewicz, D.A.4
Rouleau, G.A.5
-
104
-
-
4844227593
-
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1
-
Meijer I.A., Cossette P., Roussel J., Benard M., Toupin S., and Rouleau G.A. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann Neurol 56 (2004) 579-582
-
(2004)
Ann Neurol
, vol.56
, pp. 579-582
-
-
Meijer, I.A.1
Cossette, P.2
Roussel, J.3
Benard, M.4
Toupin, S.5
Rouleau, G.A.6
-
105
-
-
0031734986
-
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linkedhydrocephalus
-
Michaelis R.C., Du Y.Z., and Schwartz C.E. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linkedhydrocephalus. J Med Genet 35 (1998) 901-904
-
(1998)
J Med Genet
, vol.35
, pp. 901-904
-
-
Michaelis, R.C.1
Du, Y.Z.2
Schwartz, C.E.3
-
106
-
-
0033365230
-
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originatemore frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease
-
Mimault C., Giraud G., Courtois V., Cailloux F., Boire J.Y., Dastugue B., and Boespflug-Tanguy O. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originatemore frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am J Hum Genet 65 (1999) 360-369
-
(1999)
Am J Hum Genet
, vol.65
, pp. 360-369
-
-
Mimault, C.1
Giraud, G.2
Courtois, V.3
Cailloux, F.4
Boire, J.Y.5
Dastugue, B.6
Boespflug-Tanguy, O.7
-
107
-
-
0141813334
-
Novel spastin mutations and their expression analysis in two Italian families
-
Molon A., Montagna P., Angelini C., and Pegoraro E. Novel spastin mutations and their expression analysis in two Italian families. Eur J Hum Genet 11 (2003) 710-713
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 710-713
-
-
Molon, A.1
Montagna, P.2
Angelini, C.3
Pegoraro, E.4
-
108
-
-
0037204875
-
A novel mutation in the spastin gene in a family with spastic paraplegia
-
Morita M., Ho M., Hosler B.A., McKenna-Yasek D., and Brown Jr. R.H. A novel mutation in the spastin gene in a family with spastic paraplegia. Neurosci Lett 325 (2002) 57-61
-
(2002)
Neurosci Lett
, vol.325
, pp. 57-61
-
-
Morita, M.1
Ho, M.2
Hosler, B.A.3
McKenna-Yasek, D.4
Brown Jr., R.H.5
-
109
-
-
0036260824
-
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
-
Muglia M., Magariello A., Nicoletti G., Patitucci A., Gabriele A.L., Conforti F.L., Mazzei R., Caracciolo M., Ardito B., Lastilla M., Tedeschi G., and Quattrone A. Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. Ann Neurol 51 (2002) 794-795
-
(2002)
Ann Neurol
, vol.51
, pp. 794-795
-
-
Muglia, M.1
Magariello, A.2
Nicoletti, G.3
Patitucci, A.4
Gabriele, A.L.5
Conforti, F.L.6
Mazzei, R.7
Caracciolo, M.8
Ardito, B.9
Lastilla, M.10
Tedeschi, G.11
Quattrone, A.12
-
110
-
-
0345279856
-
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
-
Murillo F., Kobayashi H., Pegoraro E., Galluzzi G., Creel G., Mariana C., Farina E., Ricci Em Alfonso G., Pauli R.M., and Hoffman E.P. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 53 (1999) 50-56
-
(1999)
Neurology
, vol.53
, pp. 50-56
-
-
Murillo, F.1
Kobayashi, H.2
Pegoraro, E.3
Galluzzi, G.4
Creel, G.5
Mariana, C.6
Farina, E.7
Ricci Em Alfonso, G.8
Pauli, R.M.9
Hoffman, E.P.10
-
111
-
-
0035869256
-
A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study
-
Namekawa M., Takiyama Y., Sakoe K., Nagaki H., Shimazaki H., Yoshimura M., Ikeguchi K., Nakano I., and Nishizawa M. A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study. J Neurol Sci 185 (2001) 63-68
-
(2001)
J Neurol Sci
, vol.185
, pp. 63-68
-
-
Namekawa, M.1
Takiyama, Y.2
Sakoe, K.3
Nagaki, H.4
Shimazaki, H.5
Yoshimura, M.6
Ikeguchi, K.7
Nakano, I.8
Nishizawa, M.9
-
112
-
-
0036913530
-
A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity
-
Namekawa M., Takiyama Y., Sakoe K., Shimazaki H., Amaike M., Niijima K., Nakano I., and Nishizawa M. A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity. Acta Neurol Scand 106 (2002) 387-391
-
(2002)
Acta Neurol Scand
, vol.106
, pp. 387-391
-
-
Namekawa, M.1
Takiyama, Y.2
Sakoe, K.3
Shimazaki, H.4
Amaike, M.5
Niijima, K.6
Nakano, I.7
Nishizawa, M.8
-
113
-
-
4444381420
-
Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation
-
Nicholas A.P., O'Hearn E., Holmes S.E., Chen D.T., and Margolis R.L. Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation. Mov Disord 19 (2004) 641-648
-
(2004)
Mov Disord
, vol.19
, pp. 641-648
-
-
Nicholas, A.P.1
O'Hearn, E.2
Holmes, S.E.3
Chen, D.T.4
Margolis, R.L.5
-
114
-
-
10844278272
-
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
-
Nielsen J.E., Johnsen B., Koefoed P., Scheuer K.H., Gronbech-Jensen M., Law I., Krabbe K., Norremolle A., Eiberg H., Sondergard H., Dam M., Rehfeld J.F., Krarup C., Paulson O.B., Hasholt L., and Sorensen S.A. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol 11 (2004) 817-824
-
(2004)
Eur J Neurol
, vol.11
, pp. 817-824
-
-
Nielsen, J.E.1
Johnsen, B.2
Koefoed, P.3
Scheuer, K.H.4
Gronbech-Jensen, M.5
Law, I.6
Krabbe, K.7
Norremolle, A.8
Eiberg, H.9
Sondergard, H.10
Dam, M.11
Rehfeld, J.F.12
Krarup, C.13
Paulson, O.B.14
Hasholt, L.15
Sorensen, S.A.16
-
115
-
-
2642582687
-
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection
-
Nielsen J.E., Koefoed P., Kjaergaard S., Jensen L.N., Norremolle A., and Hasholt L. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. Prenat Diagn 24 (2004) 363-366
-
(2004)
Prenat Diagn
, vol.24
, pp. 363-366
-
-
Nielsen, J.E.1
Koefoed, P.2
Kjaergaard, S.3
Jensen, L.N.4
Norremolle, A.5
Hasholt, L.6
-
116
-
-
0037069247
-
Clinical and genetic study of a large Italian family linked to SPG12 locus
-
Orlacchio A., Kawarai T., Rogaeva E., Song Y.Q., Paterson A.D., Bernardi G., and St George-Hyslop P.H. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 59 (2002) 1395-1401
-
(2002)
Neurology
, vol.59
, pp. 1395-1401
-
-
Orlacchio, A.1
Kawarai, T.2
Rogaeva, E.3
Song, Y.Q.4
Paterson, A.D.5
Bernardi, G.6
St George-Hyslop, P.H.7
-
117
-
-
2442687877
-
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
-
Orlacchio A., Gaudiello F., Totaro A., Floris R., St George-Hyslop P.H., Bernardi G., and Kawarai T. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 62 (2004) 1875-1878
-
(2004)
Neurology
, vol.62
, pp. 1875-1878
-
-
Orlacchio, A.1
Gaudiello, F.2
Totaro, A.3
Floris, R.4
St George-Hyslop, P.H.5
Bernardi, G.6
Kawarai, T.7
-
118
-
-
2942590954
-
Hereditary spastic paraplegia: clinical genetic study of 15 families
-
Orlacchio A., Kawarai T., Totaro A., Errico A., St George-Hyslop P.H., Rugarli E.I., and Bernardi G. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 61 (2004) 849-855
-
(2004)
Arch Neurol
, vol.61
, pp. 849-855
-
-
Orlacchio, A.1
Kawarai, T.2
Totaro, A.3
Errico, A.4
St George-Hyslop, P.H.5
Rugarli, E.I.6
Bernardi, G.7
-
119
-
-
0035934020
-
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci
-
Patel H., Hart P.E., Warner T., Allen I., Phillimore H.E., Silver J.R., Wood N.W., Jeffery S., Patton M.A., and Crosby A.H. Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. Am J Med Genet 102 (2001) 68-72
-
(2001)
Am J Med Genet
, vol.102
, pp. 68-72
-
-
Patel, H.1
Hart, P.E.2
Warner, T.3
Allen, I.4
Phillimore, H.E.5
Silver, J.R.6
Wood, N.W.7
Jeffery, S.8
Patton, M.A.9
Crosby, A.H.10
-
120
-
-
0036699065
-
SPG20 is mutated in Troyer syndrome, a hereditary spastic paraplegia
-
Patel H., Cross H., Proukakis C., Hershberger R., Bork P., Ciccarelli F.D., Patton M.A., McKusick V.A., and Crosby A.H. SPG20 is mutated in Troyer syndrome, a hereditary spastic paraplegia. Nat Genet 31 (2002) 37-38
-
(2002)
Nat Genet
, vol.31
, pp. 37-38
-
-
Patel, H.1
Cross, H.2
Proukakis, C.3
Hershberger, R.4
Bork, P.5
Ciccarelli, F.D.6
Patton, M.A.7
McKusick, V.A.8
Crosby, A.H.9
-
121
-
-
0036166840
-
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia
-
Patrono C., Casali C., Tessa A., Cricchi F., Fortini D., Carrozzo R., Siciliano G., Bertini E., and Santorelli F.M. Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. J Neurol 249 (2002) 200-205
-
(2002)
J Neurol
, vol.249
, pp. 200-205
-
-
Patrono, C.1
Casali, C.2
Tessa, A.3
Cricchi, F.4
Fortini, D.5
Carrozzo, R.6
Siciliano, G.7
Bertini, E.8
Santorelli, F.M.9
-
122
-
-
0029089031
-
Mutations in RCA1 and AFG3 inhibit F-ATPase assembly in Saccharomyces cerevisiae
-
Paul M.-F., and Tzagoloff A. Mutations in RCA1 and AFG3 inhibit F-ATPase assembly in Saccharomyces cerevisiae. FEBS Lett 373 (1995) 66-70
-
(1995)
FEBS Lett
, vol.373
, pp. 66-70
-
-
Paul, M.-F.1
Tzagoloff, A.2
-
123
-
-
0030737007
-
In situ expression of PLP/DM-20, MBP, and CNP during embryonic and postnatal development of the jimpy mutant and of transgenic mice overexpressing PLP
-
Peyron F., Timsit S., Thomas J.L., Kagawa T., Ikenaka K., and Zalc B. In situ expression of PLP/DM-20, MBP, and CNP during embryonic and postnatal development of the jimpy mutant and of transgenic mice overexpressing PLP. J Neurosci Res 50 (1997) 190-201
-
(1997)
J Neurosci Res
, vol.50
, pp. 190-201
-
-
Peyron, F.1
Timsit, S.2
Thomas, J.L.3
Kagawa, T.4
Ikenaka, K.5
Zalc, B.6
-
124
-
-
0034883065
-
Respiratory chain defects in hereditary spastic paraplegias
-
Piemonte F., Casali C., Carrozzo R., Schagger H., Patrono C., Tessa A., Tozzi G., Cricchi F., Di Capua M., Siciliano G., Amabile G.A., Morocutti C., Bertini E., and Santorelli F.M. Respiratory chain defects in hereditary spastic paraplegias. Neuromuscul Disord 11 (2001) 565-569
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 565-569
-
-
Piemonte, F.1
Casali, C.2
Carrozzo, R.3
Schagger, H.4
Patrono C.5
Tessa, A.6
Tozzi, G.7
Cricchi, F.8
Di Capua, M.9
Siciliano, G.10
Amabile, G.A.11
Morocutti, C.12
Bertini, E.13
Santorelli, F.M.14
-
125
-
-
0025876335
-
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
-
(Pt 2)
-
(Pt 2). Polo J.M., Calleja J., Combarros O., and Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 114 (1991.) 855-866
-
(1991)
Brain
, vol.114
, pp. 855-866
-
-
Polo, J.M.1
Calleja, J.2
Combarros, O.3
Berciano, J.4
-
126
-
-
0037105958
-
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia
-
Proukakis C., Hart P.E., Cornish A., Warner T.T., and Crosby A.H. Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. J Neurol Sci 201 (2002) 65-69
-
(2002)
J Neurol Sci
, vol.201
, pp. 65-69
-
-
Proukakis, C.1
Hart, P.E.2
Cornish, A.3
Warner, T.T.4
Crosby, A.H.5
-
127
-
-
0037313655
-
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene
-
Proukakis C., Auer-Grumbach M., Wagner K., Wilkinson P.A., Reid E., Patton M.A., Warner T.T., and Crosby A.H. Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat 21 (2003) 170
-
(2003)
Hum Mutat
, vol.21
, pp. 170
-
-
Proukakis, C.1
Auer-Grumbach, M.2
Wagner, K.3
Wilkinson, P.A.4
Reid, E.5
Patton, M.A.6
Warner, T.T.7
Crosby, A.H.8
-
128
-
-
4644268519
-
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia
-
Proukakis C., Cross H., Patel H., Patton M.A., Valentine A., and Crosby A.H. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol 251 (2004) 1105-1110
-
(2004)
J Neurol
, vol.251
, pp. 1105-1110
-
-
Proukakis, C.1
Cross, H.2
Patel, H.3
Patton, M.A.4
Valentine, A.5
Crosby, A.H.6
-
129
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
Puls I., Jonnakuty C., LaMonte B.H., Holzbaur E.L., Tokito M., Mann E., Floeter M.K., Bidus K., Drayna D., Oh S.J., Brown Jr. R.H., Ludlow C.L., and Fischbeck K.H. Mutant dynactin in motor neuron disease. Nat Genet 33 (2003) 455-456
-
(2003)
Nat Genet
, vol.33
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
LaMonte, B.H.3
Holzbaur, E.L.4
Tokito, M.5
Mann, E.6
Floeter, M.K.7
Bidus, K.8
Drayna, D.9
Oh, S.J.10
Brown Jr., R.H.11
Ludlow, C.L.12
Fischbeck, K.H.13
-
130
-
-
0037962973
-
A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family
-
Qin W., Zhang T., Han J., Tang L., Li X., Feng G., Liu W., and He L. A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family. J Neurol Sci 210 (2003) 35-39
-
(2003)
J Neurol Sci
, vol.210
, pp. 35-39
-
-
Qin, W.1
Zhang, T.2
Han, J.3
Tang, L.4
Li, X.5
Feng, G.6
Liu, W.7
He, L.8
-
131
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
-
Rainier S., Chai J.H., Tokarz D., Nicholls R.D., and Fink J.K. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 73 (2003) 967-971
-
(2003)
Am J Hum Genet
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.H.2
Tokarz, D.3
Nicholls, R.D.4
Fink, J.K.5
-
132
-
-
0026348463
-
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease
-
Raskind W.H., Williams C.A., Hudson L.D., and Bird T.D. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49 (1991) 1355-1360
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1355-1360
-
-
Raskind, W.H.1
Williams, C.A.2
Hudson, L.D.3
Bird, T.D.4
-
133
-
-
20044364199
-
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia
-
Epub.
-
Epub. Reed J.A., Wilkinson P.A., Patel H., Simpson M.A., Chatonnet A., Robay D., Patton M.A., Crosby A.H., and Warner T.T. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics (2005)
-
(2005)
Neurogenetics
-
-
Reed, J.A.1
Wilkinson, P.A.2
Patel, H.3
Simpson, M.A.4
Chatonnet, A.5
Robay, D.6
Patton, M.A.7
Crosby, A.H.8
Warner, T.T.9
-
134
-
-
0033544418
-
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity
-
Reid E., Dearlove A.M., Whiteford M.L., Rhodes M., and Rubinsztein D.C. Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. Neurology 53 (1999) 1844-1849
-
(1999)
Neurology
, vol.53
, pp. 1844-1849
-
-
Reid, E.1
Dearlove, A.M.2
Whiteford, M.L.3
Rhodes, M.4
Rubinsztein, D.C.5
-
135
-
-
0033912569
-
A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13
-
Reid E., Dearlove A.M., Osborn O., Rogers M.T., and Rubinsztein D.C. A locus for autosomal dominant 'pure' hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 66 (2000) 728-732
-
(2000)
Am J Hum Genet
, vol.66
, pp. 728-732
-
-
Reid, E.1
Dearlove, A.M.2
Osborn, O.3
Rogers, M.T.4
Rubinsztein, D.C.5
-
136
-
-
18644365196
-
A kinesin heavy chain (KIF5A). mutation in hereditary spastic paraplegia (SPG10)
-
Reid E., Kloos M., Ashley-Koch A., Hughes L., Bevan S., Svenson I.K., Graham F.L., Gaskell P.C., Dearlove A., Pericak-Vance M.A., Rubinsztein D.C., and Marchuk D.A. A kinesin heavy chain (KIF5A). mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 71 (2002) 1189-1194
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1189-1194
-
-
Reid, E.1
Kloos, M.2
Ashley-Koch, A.3
Hughes, L.4
Bevan, S.5
Svenson, I.K.6
Graham, F.L.7
Gaskell, P.C.8
Dearlove, A.9
Pericak-Vance, M.A.10
Rubinsztein, D.C.11
Marchuk, D.A.12
-
137
-
-
12344250580
-
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
-
Reid E., Connell J., Edwards T.L., Duley S., Brown S.E., and Sanderson C.M. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum Mol Genet 14 (2005) 19-38
-
(2005)
Hum Mol Genet
, vol.14
, pp. 19-38
-
-
Reid, E.1
Connell, J.2
Edwards, T.L.3
Duley, S.4
Brown, S.E.5
Sanderson, C.M.6
-
138
-
-
0019463891
-
Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins
-
Renier W.O., Gabreels F.J., Hustinx T.W., Jaspar H.H., Geelen J.A., Van Haelst U.J., and Ter Haar B.G. Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins. Acta Neuropath 54 (1981) 11-17
-
(1981)
Acta Neuropath
, vol.54
, pp. 11-17
-
-
Renier, W.O.1
Gabreels, F.J.2
Hustinx, T.W.3
Jaspar, H.H.4
Geelen, J.A.5
Van Haelst, U.J.6
Ter Haar, B.G.7
-
139
-
-
0029803808
-
The role of protein degradation in mitochondrial function and biogenesis
-
Rep M., and Grivell L.A. The role of protein degradation in mitochondrial function and biogenesis. Curr Genet 30 (1996) 367-380
-
(1996)
Curr Genet
, vol.30
, pp. 367-380
-
-
Rep, M.1
Grivell, L.A.2
-
140
-
-
0034657629
-
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin
-
Rocco P., Vainzof M., Froehner S.C., Peters M.F., Marie S.K., Passos-Bueno M.R., and Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet 92 (2000) 122-127
-
(2000)
Am J Med Genet
, vol.92
, pp. 122-127
-
-
Rocco, P.1
Vainzof, M.2
Froehner, S.C.3
Peters, M.F.4
Marie, S.K.5
Passos-Bueno, M.R.6
Zatz, M.7
-
141
-
-
0018169181
-
Familial spastic paraplegia: clinical and pathological studies in a large kindred
-
Sack G.H., Huether C.A., and Garg N. Familial spastic paraplegia: clinical and pathological studies in a large kindred. Johns Hopkins Med J 143 (1978) 117-121
-
(1978)
Johns Hopkins Med J
, vol.143
, pp. 117-121
-
-
Sack, G.H.1
Huether, C.A.2
Garg, N.3
-
142
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier-Veber P., Munnich A., Bonneau D., Rozet J.-M., Le Merrer M., Gil R., and Boespflug-Tanguy O. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6 (1994) 257-261
-
(1994)
Nat Genet
, vol.6
, pp. 257-261
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
Rozet, J.-M.4
Le Merrer, M.5
Gil, R.6
Boespflug-Tanguy, O.7
-
143
-
-
18444378149
-
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
-
Sauter S., Miterski B., Klimpe S., Bonsch D., Schols L., Visbeck A., Papke T., Hopf H.C., Engel W., Deufel T., Epplen J.T., and Neesen J. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 20 (2002) 127-132
-
(2002)
Hum Mutat
, vol.20
, pp. 127-132
-
-
Sauter, S.1
Miterski, B.2
Klimpe, S.3
Bonsch, D.4
Schols, L.5
Visbeck, A.6
Papke, T.7
Hopf, H.C.8
Engel, W.9
Deufel, T.10
Epplen, J.T.11
Neesen, J.12
-
144
-
-
1542783703
-
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms ofHSP linked to the SPG3A locus
-
Sauter S.M., Engel W., Neumann L.M., Kunze J., and Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms ofHSP linked to the SPG3A locus. Hum Mutat 23 (2004) 98
-
(2004)
Hum Mutat
, vol.23
, pp. 98
-
-
Sauter, S.M.1
Engel, W.2
Neumann, L.M.3
Kunze, J.4
Neesen, J.5
-
145
-
-
0004709140
-
Hereditary (familial) spastic paraplegia
-
Schwarz G.A. Hereditary (familial) spastic paraplegia. AMA Arch Neurol Psychiatry 68 (1952) 655-662
-
(1952)
AMA Arch Neurol Psychiatry
, vol.68
, pp. 655-662
-
-
Schwarz, G.A.1
-
146
-
-
0001519052
-
Hereditary (familial) spastic paraplegia; further clinical and pathologic observations
-
Schwarz G.A., and Liu C.N. Hereditary (familial) spastic paraplegia; further clinical and pathologic observations. AMA Arch Neurol Psychiatry 75 (1956) 144-162
-
(1956)
AMA Arch Neurol Psychiatry
, vol.75
, pp. 144-162
-
-
Schwarz, G.A.1
Liu, C.N.2
-
147
-
-
0033069503
-
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spasticparaparesis with amyotrophy
-
Seri M., Cusano R., Forabosco P., Cinti R., Caroli F., Picco P., Bini R., Morra V.B., De Michele G., Lerone M., Silengo M., Pela I., Borrone C., Romeo G., and Devoto M. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spasticparaparesis with amyotrophy. Am J Hum Genet 64 (1999) 586-593
-
(1999)
Am J Hum Genet
, vol.64
, pp. 586-593
-
-
Seri, M.1
Cusano, R.2
Forabosco, P.3
Cinti, R.4
Caroli, F.5
Picco, P.6
Bini, R.7
Morra, V.B.8
De Michele, G.9
Lerone, M.10
Silengo, M.11
Pela, I.12
Borrone, C.13
Romeo, G.14
Devoto, M.15
-
148
-
-
13944280702
-
Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function
-
Sherwood N.T., Sun Q., Xue M., Zhang B., and Zinn K. Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function. PLoS Biol 2 (2004) e429
-
(2004)
PLoS Biol
, vol.2
-
-
Sherwood, N.T.1
Sun, Q.2
Xue, M.3
Zhang, B.4
Zinn, K.5
-
149
-
-
0033930099
-
Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15
-
Shibasaki Y., Tanaka H., Iwabuchi K., Kawasaki S., Kondo H., Uekawa K., Ueda M., Kamiya T., Katayama Y., Nakamura A., Takashima H., Nakagawa M., Masuda M., Utsumi H., Nakamuro T., Tada K., Kurohara K., Inoue K., Koike F., Sakai T., Tsuji S., and Kobayashi H. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15. Ann Neurol 48 (2000) 108-112
-
(2000)
Ann Neurol
, vol.48
, pp. 108-112
-
-
Shibasaki, Y.1
Tanaka, H.2
Iwabuchi, K.3
Kawasaki, S.4
Kondo, H.5
Uekawa, K.6
Ueda, M.7
Kamiya, T.8
Katayama, Y.9
Nakamura, A.10
Takashima, H.11
Nakagawa, M.12
Masuda, M.13
Utsumi, H.14
Nakamuro, T.15
Tada, K.16
Kurohara, K.17
Inoue, K.18
Koike, F.19
Sakai, T.20
Tsuji, S.21
Kobayashi, H.22
more..
-
150
-
-
0031453761
-
Hereditary ataxias and spastic paraplegias: methological aspects of a prevalence study in Portugal
-
Silva M.C., Coutinho P., Pinheiro C.D., Neves J.M., and Serrano P. Hereditary ataxias and spastic paraplegias: methological aspects of a prevalence study in Portugal. J Clin Epidemiol 50 (1997) 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
-
151
-
-
0013923447
-
Familial spastic paraplegia with amyotrophy of the hands
-
Silver J.R. Familial spastic paraplegia with amyotrophy of the hands. Ann Hum Genet 30 (1966) 69-75
-
(1966)
Ann Hum Genet
, vol.30
, pp. 69-75
-
-
Silver, J.R.1
-
152
-
-
0242691095
-
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
-
Simpson M.A., Cross H., Proukakis C., Pryde A., Hershberger R., Chatonnet A., Patton M.A., and Crosby A.H. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 73 (2003) 1147-1156
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
Pryde, A.4
Hershberger, R.5
Chatonnet, A.6
Patton, M.A.7
Crosby, A.H.8
-
153
-
-
0030020210
-
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
-
Sistermans E.A., de Wijs I.J., de Coo R.F., Smit L.M., Menko F.H., and van Oost B.A. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family. Hum Genet 97 (1996) 337-339
-
(1996)
Hum Genet
, vol.97
, pp. 337-339
-
-
Sistermans, E.A.1
de Wijs, I.J.2
de Coo, R.F.3
Smit, L.M.4
Menko, F.H.5
van Oost, B.A.6
-
154
-
-
0031801082
-
duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
-
Sistermans E.A., de Coo R.F., De Wijs I.J., and Van Oost B.A. duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 50 (1998) 1749-1754
-
(1998)
Neurology
, vol.50
, pp. 1749-1754
-
-
Sistermans, E.A.1
de Coo, R.F.2
De Wijs, I.J.3
Van Oost, B.A.4
-
155
-
-
0032965277
-
Novel exon 3B proteolipid protein gene mutation causing lateonset spastic paraplegia type 2 with variable penetrance in female family members
-
Sivakumar K., Sambuughin N., Selenge B., Nagle J.W., Baasanjav D., Hudson L.D., and Goldfarb L.G. Novel exon 3B proteolipid protein gene mutation causing lateonset spastic paraplegia type 2 with variable penetrance in female family members. Ann Neurol 45 (1999) 680-683
-
(1999)
Ann Neurol
, vol.45
, pp. 680-683
-
-
Sivakumar, K.1
Sambuughin, N.2
Selenge, B.3
Nagle, J.W.4
Baasanjav, D.5
Hudson, L.D.6
Goldfarb, L.G.7
-
156
-
-
0029966693
-
Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?
-
Slavotinek A.M., Pike M., Mills K., and Hurst J.A. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?. Am J Med Genet 62 (1996) 42-47
-
(1996)
Am J Med Genet
, vol.62
, pp. 42-47
-
-
Slavotinek, A.M.1
Pike, M.2
Mills, K.3
Hurst, J.A.4
-
157
-
-
0032506523
-
Decoupling of nucleotide- and microtubule-binding sites in a kinesin mutant
-
Song H., and Endow S.A. Decoupling of nucleotide- and microtubule-binding sites in a kinesin mutant. Nature 396 (1998) 587-590
-
(1998)
Nature
, vol.396
, pp. 587-590
-
-
Song, H.1
Endow, S.A.2
-
158
-
-
0037158474
-
Further evidence for a fourth gene causing X-linked pure spastic paraplegia
-
Starling A., Rocco P., Cambi F., Hobson G.M., Passos Bueno M.R., and Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. Am J Med Genet 111 (2002) 152-156
-
(2002)
Am J Med Genet
, vol.111
, pp. 152-156
-
-
Starling, A.1
Rocco, P.2
Cambi, F.3
Hobson, G.M.4
Passos Bueno, M.R.5
Zatz, M.6
-
159
-
-
0036885985
-
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
-
Starling A., Rocco P., Passos-Bueno M.R., Hazan J., Marie S.K., and Zatz M. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree. J Med Genet 39 (2002) e77
-
(2002)
J Med Genet
, vol.39
-
-
Starling, A.1
Rocco, P.2
Passos-Bueno, M.R.3
Hazan, J.4
Marie, S.K.5
Zatz, M.6
-
160
-
-
0030839659
-
Evidence of a third locus in X-linked recessive paraplegia
-
Steinmuller R., Lantigua-Cruz A., Garcia-Garcia R., Kostrzewa M., Steinberger D., and Muller U. Evidence of a third locus in X-linked recessive paraplegia. Hum Genet 100 (1997) 287-289
-
(1997)
Hum Genet
, vol.100
, pp. 287-289
-
-
Steinmuller, R.1
Lantigua-Cruz, A.2
Garcia-Garcia, R.3
Kostrzewa, M.4
Steinberger, D.5
Muller, U.6
-
161
-
-
0025080549
-
Allan-Herndon syndrome. I. Clinical studies
-
Stevenson R.E., Goodman H.O., Schwartz C.E., Simensen R.J., McLean Jr. W.T., and Herndon C.N. Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet 47 (1990) 446-453
-
(1990)
Am J Hum Genet
, vol.47
, pp. 446-453
-
-
Stevenson, R.E.1
Goodman, H.O.2
Schwartz, C.E.3
Simensen, R.J.4
McLean Jr., W.T.5
Herndon, C.N.6
-
162
-
-
0019447559
-
Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome
-
Stewart R.M., Tunell G., and Ehle A. Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome. Neurology 31 (1981) 754-757
-
(1981)
Neurology
, vol.31
, pp. 754-757
-
-
Stewart, R.M.1
Tunell, G.2
Ehle, A.3
-
163
-
-
0035006836
-
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
-
Svenson I.K., Ashley-Koch A.E., Gaskell P.C., Riney T.J., Cumming W.J., Kingston H.M., Hogan E.L., Boustany R.M., Vance J.M., Nance M.A., Pericak-Vance M.A., and Marchuk D.A. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet 68 (2001) 1077-1085
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1077-1085
-
-
Svenson, I.K.1
Ashley-Koch, A.E.2
Gaskell, P.C.3
Riney, T.J.4
Cumming, W.J.5
Kingston, H.M.6
Hogan, E.L.7
Boustany, R.M.8
Vance, J.M.9
Nance, M.A.10
Pericak-Vance, M.A.11
Marchuk, D.A.12
-
165
-
-
5444231843
-
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
-
Svenson I.K., Kloos M.T., Gaskell P.C., Nance M.A., Garbern J.Y., Hisanaga S., Pericak-Vance M.A., Ashley-Koch A.E., and Marchuk D.A. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics 5 (2004) 157-164.
-
(2004)
Neurogenetics
, vol.5
-
-
Svenson, I.K.1
Kloos, M.T.2
Gaskell, P.C.3
Nance, M.A.4
Garbern, J.Y.5
Hisanaga, S.6
Pericak-Vance, M.A.7
Ashley-Koch, A.E.8
Marchuk, D.A.9
-
166
-
-
0034605365
-
Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2
-
Tamagaki A., Shima M., Tomita R., Okumura M., Shibata M., Morichika S., Kurahashi H., Giddings J.C., Yoshioka A., and Yokobayashi Y. Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet 94 (2000) 5-8
-
(2000)
Am J Med Genet
, vol.94
, pp. 5-8
-
-
Tamagaki, A.1
Shima, M.2
Tomita, R.3
Okumura, M.4
Shibata, M.5
Morichika, S.6
Kurahashi, H.7
Giddings, J.C.8
Yoshioka, A.9
Yokobayashi, Y.10
-
167
-
-
9144223076
-
Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia
-
Tang B., Zhao G., Xia K., Pan Q., Luo W., Shen L., Long Z., Dai H., Zi X., and Jiang H. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Arch Neurol 61 (2004) 49-55
-
(2004)
Arch Neurol
, vol.61
, pp. 49-55
-
-
Tang, B.1
Zhao, G.2
Xia, K.3
Pan, Q.4
Luo, W.5
Shen, L.6
Long, Z.7
Dai, H.8
Zi, X.9
Jiang, H.10
-
168
-
-
0027988708
-
Yta10p, a member of a novel ATPase family in yeast, is essential for mitochondrial function
-
Tauer R., Mannhaupt G., Schnall R., Pajic A., Langer T., and Feldmann H. Yta10p, a member of a novel ATPase family in yeast, is essential for mitochondrial function. FEBS Lett 353 (1994) 197-200
-
(1994)
FEBS Lett
, vol.353
, pp. 197-200
-
-
Tauer, R.1
Mannhaupt, G.2
Schnall, R.3
Pajic, A.4
Langer, T.5
Feldmann, H.6
-
169
-
-
0037168428
-
SPG3A: An additional family carrying a new atlastin mutation
-
Tessa A., Casali C., Damiano M., Bruno C., Fortini D., Patrono C., Cricchi F., Valoppi M., Nappi G., Amabile G.A., Bertini E., and Santorelli F.M. SPG3A: An additional family carrying a new atlastin mutation. Neurology 59 (2002) 2002-2005
-
(2002)
Neurology
, vol.59
, pp. 2002-2005
-
-
Tessa, A.1
Casali, C.2
Damiano, M.3
Bruno, C.4
Fortini, D.5
Patrono, C.6
Cricchi, F.7
Valoppi, M.8
Nappi, G.9
Amabile, G.A.10
Bertini, E.11
Santorelli, F.M.12
-
170
-
-
0028928684
-
Oligodendrocytes originate in a restricted zone of the embryonic ventral neural tube defined by DM-20 mRNA expression
-
Timsit S., Martinez S., Allinquant B., Peyron F., Puelles L., and Zalc B. Oligodendrocytes originate in a restricted zone of the embryonic ventral neural tube defined by DM-20 mRNA expression. J Neurosci 15 (1995) 1012-1024
-
(1995)
J Neurosci
, vol.15
, pp. 1012-1024
-
-
Timsit, S.1
Martinez, S.2
Allinquant, B.3
Peyron, F.4
Puelles, L.5
Zalc, B.6
-
171
-
-
3142647116
-
The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
-
Trotta N., Orso G., Rossetto M.G., Daga A., and Broadie K. The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. Curr Biol 14 (2004) 1135-1147
-
(2004)
Curr Biol
, vol.14
, pp. 1135-1147
-
-
Trotta, N.1
Orso, G.2
Rossetto, M.G.3
Daga, A.4
Broadie, K.5
-
172
-
-
67649312686
-
A new member of a family of ATPases is essential for assembly of mitochondrial respiratory chain and ATP synthetase complexes in Saccharomycescerevisiae
-
Tzagoloff A., Yue J., Jang J., and Paul M.-F. A new member of a family of ATPases is essential for assembly of mitochondrial respiratory chain and ATP synthetase complexes in Saccharomycescerevisiae. Mol Cell Biol 13 (1994) 5418-5426
-
(1994)
Mol Cell Biol
, vol.13
, pp. 5418-5426
-
-
Tzagoloff, A.1
Yue, J.2
Jang, J.3
Paul, M.-F.4
-
173
-
-
0036260783
-
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
-
Valente E.M., Brancati F., Caputo V., Bertini E., Patrono C., Costanti D., and Dallapiccola B. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann Neurol 51 (2002) 681-685
-
(2002)
Ann Neurol
, vol.51
, pp. 681-685
-
-
Valente, E.M.1
Brancati, F.2
Caputo, V.3
Bertini, E.4
Patrono, C.5
Costanti, D.6
Dallapiccola, B.7
-
174
-
-
0033868486
-
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome3q27-q28
-
Vazza G., Zortea M., Boaretto F., Micaglio G.F., Sartori V., and Mostacciuolo M.L. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome3q27-q28. Am J Hum Genet 67 (2000) 504-509
-
(2000)
Am J Hum Genet
, vol.67
, pp. 504-509
-
-
Vazza, G.1
Zortea, M.2
Boaretto, F.3
Micaglio, G.F.4
Sartori, V.5
Mostacciuolo, M.L.6
-
175
-
-
4644255616
-
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia
-
Warner T.T., Patel H., Proukakis C., Reed J.A., McKie L., Wills A., Patton M.A., and Crosby A.H. A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol 251 (2004) 1068-1074
-
(2004)
J Neurol
, vol.251
, pp. 1068-1074
-
-
Warner, T.T.1
Patel, H.2
Proukakis, C.3
Reed, J.A.4
McKie, L.5
Wills, A.6
Patton, M.A.7
Crosby, A.H.8
-
176
-
-
0031976287
-
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
-
(Pt 4)
-
(Pt 4). Webb S., Coleman D., Byrne P., Parfrey N., Burke T., Hutchinson J., and Hutchinson M. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 121 (1998) 601-609
-
(1998)
Brain
, vol.121
, pp. 601-609
-
-
Webb, S.1
Coleman, D.2
Byrne, P.3
Parfrey, N.4
Burke, T.5
Hutchinson, J.6
Hutchinson, M.7
-
177
-
-
0242693281
-
The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene
-
Wharton S.B., McDermott C.J., Grierson A.J., Wood J.D., Gelsthorpe C., Ince P.G., and Shaw P.J. The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J Neuropathol Exp Neurol 62 (2003) 1166-1177
-
(2003)
J Neuropathol Exp Neurol
, vol.62
, pp. 1166-1177
-
-
Wharton, S.B.1
McDermott, C.J.2
Grierson, A.J.3
Wood, J.D.4
Gelsthorpe, C.5
Ince, P.G.6
Shaw, P.J.7
-
178
-
-
0034641262
-
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation
-
White K.D., Ince P.G., Lusher M., Lindsey J., Cookson M., Bashir R., Shaw P.J., and Bushby K.M. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 55 (2000) 89-94
-
(2000)
Neurology
, vol.55
, pp. 89-94
-
-
White, K.D.1
Ince, P.G.2
Lusher, M.3
Lindsey, J.4
Cookson, M.5
Bashir, R.6
Shaw, P.J.7
Bushby, K.M.8
-
179
-
-
0038119314
-
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia
-
Wilkinson P.A., Crosby A.H., Turner C., Patel H., Wood N.W., Schapira A.H., and Warner T.T. A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology 61 (2003) 235-238
-
(2003)
Neurology
, vol.61
, pp. 235-238
-
-
Wilkinson, P.A.1
Crosby, A.H.2
Turner, C.3
Patel, H.4
Wood, N.W.5
Schapira, A.H.6
Warner, T.T.7
-
180
-
-
2442542546
-
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
-
Wilkinson P.A., Crosby A.H., Turner C., Bradley L.J., Ginsberg L., Wood N.W., Schapira A.H., and Warner T.T. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 127 (2004) 973-980
-
(2004)
Brain
, vol.127
, pp. 973-980
-
-
Wilkinson, P.A.1
Crosby, A.H.2
Turner, C.3
Bradley, L.J.4
Ginsberg, L.5
Wood, N.W.6
Schapira, A.H.7
Warner, T.T.8
-
181
-
-
19944434326
-
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14
-
Wilkinson P.A., Simpson M.A., Bastaki L., Patel H., Reed J.A., Kalidas K., Samilchuk E., Khan R., Warner T.T., and Crosby A.H. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet 42 (2005) 80-82
-
(2005)
J Med Genet
, vol.42
, pp. 80-82
-
-
Wilkinson, P.A.1
Simpson, M.A.2
Bastaki, L.3
Patel, H.4
Reed, J.A.5
Kalidas, K.6
Samilchuk, E.7
Khan, R.8
Warner, T.T.9
Crosby, A.H.10
-
182
-
-
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., and Auer-Grumbach M. Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Hum Genet 114 (2003) 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
-
183
-
-
10744229057
-
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
-
Windpassinger C., Auer-Grumbach M., Irobi J., Patel H., Petek E., Horl G., Malli R., Reed J.A., Dierick I., Verpoorten N., Warner T.T., Proukakis C., Van den Bergh P., Verellen C., Van Maldergem L., Merlini L., De Jonghe P., Timmerman V., Crosby A.H., and Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 36 (2004) 271-276
-
(2004)
Nat Genet
, vol.36
, pp. 271-276
-
-
Windpassinger, C.1
Auer-Grumbach, M.2
Irobi, J.3
Patel, H.4
Petek, E.5
Horl, G.6
Malli, R.7
Reed, J.A.8
Dierick, I.9
Verpoorten, N.10
Warner, T.T.11
Proukakis, C.12
Van den Bergh, P.13
Verellen, C.14
Van Maldergem, L.15
Merlini, L.16
De Jonghe, P.17
Timmerman, V.18
Crosby, A.H.19
Wagner, K.20
more..
-
184
-
-
0347949644
-
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11)
-
Winner B., Uyanik G., Gross C., Lange M., Schulte-Mattler W., Schuierer G., Marienhagen J., Hehr U., and Winkler J. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol 61 (2004) 117-121
-
(2004)
Arch Neurol
, vol.61
, pp. 117-121
-
-
Winner, B.1
Uyanik, G.2
Gross, C.3
Lange, M.4
Schulte-Mattler, W.5
Schuierer, G.6
Marienhagen, J.7
Hehr, U.8
Winkler, J.9
-
185
-
-
0037084559
-
Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells
-
Wong A., Cavelier L., Collins-Schramm H.E., Seldin M.F., McGrogan M., Savontaus M.L., and Cortopassi G.A. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet 11 (2002) 431-438
-
(2002)
Hum Mol Genet
, vol.11
, pp. 431-438
-
-
Wong, A.1
Cavelier, L.2
Collins-Schramm, H.E.3
Seldin, M.F.4
McGrogan, M.5
Savontaus, M.L.6
Cortopassi, G.A.7
-
186
-
-
0032231957
-
Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH
-
Woodward K., Kendall E., Vetrie D., and Malcolm S. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am J Hum Genet 63 (1998) 207-217
-
(1998)
Am J Hum Genet
, vol.63
, pp. 207-217
-
-
Woodward, K.1
Kendall, E.2
Vetrie, D.3
Malcolm, S.4
-
187
-
-
0032169075
-
Chromosomal localization reveals three kinesin heavy chain genes in mouse
-
Xia C., Rahman A., Yang Z., and Goldstein L.S. Chromosomal localization reveals three kinesin heavy chain genes in mouse. Genomics 52 (1998) 209-213
-
(1998)
Genomics
, vol.52
, pp. 209-213
-
-
Xia, C.1
Rahman, A.2
Yang, Z.3
Goldstein, L.S.4
-
188
-
-
17044453414
-
Spastin gene mutation in Japanese with hereditary spastic paraplegia
-
Yabe I., Sasaki H., Tashiro K., Matsuura T., Takegami T., and Satoh T. Spastin gene mutation in Japanese with hereditary spastic paraplegia. J Med Genet 39 (2002) e46
-
(2002)
J Med Genet
, vol.39
-
-
Yabe, I.1
Sasaki, H.2
Tashiro, K.3
Matsuura, T.4
Takegami, T.5
Satoh, T.6
-
189
-
-
0028342518
-
Embryonic expression of myelin genes: evidence for a focal source of oligodendrocyte precursors in the ventricular zone of the neural tube
-
Yu W.P., Collarini E.J., Pringle N.P., and Richardson W.D. Embryonic expression of myelin genes: evidence for a focal source of oligodendrocyte precursors in the ventricular zone of the neural tube. Neuron 12 (1994) 1353-1362
-
(1994)
Neuron
, vol.12
, pp. 1353-1362
-
-
Yu, W.P.1
Collarini, E.J.2
Pringle, N.P.3
Richardson, W.D.4
-
190
-
-
0035355208
-
A structural pathway for activation of the kinesin motor ATPase
-
Yun M., Zhang X., Park C.G., Park H.W., and Endow S.A. A structural pathway for activation of the kinesin motor ATPase. EMBO J 20 (2001) 2611-2618
-
(2001)
EMBO J
, vol.20
, pp. 2611-2618
-
-
Yun, M.1
Zhang, X.2
Park, C.G.3
Park, H.W.4
Endow, S.A.5
-
191
-
-
0035937780
-
Cloning of ACP33 as a novel intracellular ligand of CD4
-
Zeitlmann L., Sirim P., Kremmer E., and Kolanus W. Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem 276 (2001) 9123-9132
-
(2001)
J Biol Chem
, vol.276
, pp. 9123-9132
-
-
Zeitlmann, L.1
Sirim, P.2
Kremmer, E.3
Kolanus, W.4
-
192
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B beta
-
Zhao C., Takita J., Tanaka Y., Setou M., Nakagawa T., Takeda S., Yang H.W., Terada S., Nakata T., Takei Y., Saito M., Tsuji S., Hayashi Y., and Hirokawa N. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B beta. Cell 105 (2001) 587-597
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
Setou, M.4
Nakagawa, T.5
Takeda, S.6
Yang, H.W.7
Terada, S.8
Nakata, T.9
Takei, Y.10
Saito, M.11
Tsuji, S.12
Hayashi, Y.13
Hirokawa, N.14
-
193
-
-
0035184654
-
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
-
Zhao X., Alvarado D., Rainier S., Lemons R., Hedera P., Weber C.H., Tukel T., Apak M., Heiman-Patterson T., Ming L., Bui M., and Fink J.K. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29 (2001) 326-331
-
(2001)
Nat Genet
, vol.29
, pp. 326-331
-
-
Zhao, X.1
Alvarado, D.2
Rainier, S.3
Lemons, R.4
Hedera, P.5
Weber, C.H.6
Tukel, T.7
Apak, M.8
Heiman-Patterson, T.9
Ming, L.10
Bui, M.11
Fink, J.K.12
-
194
-
-
0742281520
-
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin
-
Zhu P.P., Patterson A., Lavoie B., Stadler J., Shoeb M., Patel R., and Blackstone C. Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J Biol Chem 278 (2003) 49063-49071
-
(2003)
J Biol Chem
, vol.278
, pp. 49063-49071
-
-
Zhu, P.P.1
Patterson, A.2
Lavoie, B.3
Stadler, J.4
Shoeb, M.5
Patel, R.6
Blackstone, C.7
-
195
-
-
0036088524
-
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
-
Zortea M., Vettori A., Trevisan C.P., Bellini S., Vazza G., Armani M., Simonati A., and Mostacciuolo M.L. Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J Med Genet 39 (2002) 387-390
-
(2002)
J Med Genet
, vol.39
, pp. 387-390
-
-
Zortea, M.1
Vettori, A.2
Trevisan, C.P.3
Bellini, S.4
Vazza, G.5
Armani, M.6
Simonati, A.7
Mostacciuolo, M.L.8
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