-
1
-
-
13344285342
-
The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives
-
Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM. 1996. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem 271:2724-2730.
-
(1996)
J Biol Chem
, vol.271
, pp. 2724-2730
-
-
Ahn, A.H.1
Freener, C.A.2
Gussoni, E.3
Yoshida, M.4
Ozawa, E.5
Kunkel, L.M.6
-
2
-
-
0032231934
-
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
-
De Michele G, De Fusco M, Cavalcanti F, Fila A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S. 1998. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 63:135-139.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 135-139
-
-
De Michele, G.1
De Fusco, M.2
Cavalcanti, F.3
Fila, A.4
Marconi, R.5
Volpe, G.6
Monticelli, A.7
Ballabio, A.8
Casari, G.9
Cocozza, S.10
-
3
-
-
0028868126
-
Autosomal dominant familial spastic paraplegia tight linkage to chromosome 15q
-
Fink J Wu C, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M. 1995. Autosomal dominant familial spastic paraplegia tight linkage to chromosome 15q. Am J Hum Genet, 56:188-192.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 188-192
-
-
Fink J Wu, C.1
Jones, S.M.2
Sharp, G.B.3
Lange, B.M.4
Lesicki, A.5
Reinglass, T.6
Varvil, T.7
Otterud, B.8
Leppert, M.9
-
4
-
-
8944250670
-
Hereditary spastic paraplegia: Advances in genetic research
-
Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé M-P, Figlewicz, DA, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. 1996. Hereditary spastic paraplegia: advances in genetic research. Neurology 46:1508-1514.
-
(1996)
Neurology
, vol.46
, pp. 1508-1514
-
-
Fink, J.K.1
Heiman-Patterson, T.2
Bird, T.3
Cambi, F.4
Dubé, M.-P.5
Figlewicz, D.A.6
Haines, J.L.7
Heiman-Patterson, T.8
Hentati, A.9
Pericak-Vance, M.A.10
Raskind, W.11
Rouleau, G.A.12
Siddique, T.13
-
5
-
-
0028872909
-
Autosomal dominant familial spastic paraplegia: Reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity
-
Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G. 1995. Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am J Hum Genet 56: 183-7.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 183-187
-
-
Gispert, S.1
Santos, N.2
Damen, R.3
Voit, T.4
Schulz, J.5
Klockgether, T.6
Orozco, G.7
Kreuz, F.8
Weissenbach, J.9
Auburger, G.10
-
6
-
-
0027363223
-
Autosomal dominant familial spactic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
-
Hazan J, Lamy C, Melki J, Munnich A, de Redondo J, Weissenbach J. 1993a. Autosomal dominant familial spactic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet 5,163-167.
-
(1993)
Nature Genet
, vol.5
, pp. 163-167
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
Munnich, A.4
De Redondo, J.5
Weissenbach, J.6
-
7
-
-
0343382503
-
Autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan J, Lamy C, Melki J, Munnich A, de Redondo J, Weissenbach J. 1993b. Autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Molec Genet 93:408-414
-
(1993)
Hum Molec Genet
, vol.93
, pp. 408-414
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
Munnich, A.4
De Redondo, J.5
Weissenbach, J.6
-
8
-
-
0343818168
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan, J, Fontaine, B, Bruyn, RPM, Lamy C, van Deutekom JCT, Rime C-S, Durr A, Melki J, Lyon-Caen O, Agrid Y, Munnich A, Padberg G, de Redondo J, Frants RR, Brice A, Weissenbach J. 1994. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Molec Genet 93, 4908-414.
-
(1994)
Hum Molec Genet
, vol.93
, pp. 4908-5414
-
-
Hazan, J.1
Fontaine, B.2
Bruyn, R.P.M.3
Lamy, C.4
Van Deutekom, J.C.T.5
Rime, C.-S.6
Durr, A.7
Melki, J.8
Lyon-Caen, O.9
Agrid, Y.10
Munnich, A.11
Padberg, G.12
De Redondo, J.13
Frants, R.R.14
Brice, A.15
Weissenbach, J.16
-
9
-
-
0032721512
-
Spastin, a novel AAA protein is altered in the most frequent form of autosomal dominant spastic paraplegia
-
Hazan J, Foncknechten 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, Bertrand F, Heilig R, Weissenbach J. 1999a. Spastin, a novel AAA protein is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genet 23:296-303
-
(1999)
Nature Genet
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Foncknechten, 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
Bertrand, F.17
Heilig, R.18
Weissenbach, J.19
-
10
-
-
0033568545
-
A fine integrated map of the SPG4 locus excludes na expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia
-
Hazan J, Davoine C-S, Mavel D, Fonckneten N, Paternotte C, Fizames C, Cruaud C, Sarnson D, Muselet D, Veja-Czarny N, Brice A, Gyapay G, Heilig R, Fontaine B, Weissenbach J. 1999b. A fine integrated map of the SPG4 locus excludes na expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. Genomics 60:309-319
-
(1999)
Genomics
, vol.60
, pp. 309-319
-
-
Hazan, J.1
Davoine, C.-S.2
Mavel, D.3
Fonckneten, N.4
Paternotte, C.5
Fizames, C.6
Cruaud, C.7
Sarnson, D.8
Muselet, D.9
Veja-Czarny, N.10
Brice, A.11
Gyapay, G.12
Heilig, R.13
Fontaine, B.14
Weissenbach, J.15
-
11
-
-
0033073735
-
Novel locus for autosomal dominant hereditary paraplegia on chromosome 8q
-
Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. 1999a. Novel locus for autosomal dominant hereditary paraplegia on chromosome 8q. Am J Hum Genet 64:563-569
-
(1999)
Am J Hum Genet
, vol.64
, pp. 563-569
-
-
Hedera, P.1
Rainier, S.2
Alvarado, D.3
Zhao, X.4
Williamson, J.5
Otterud, B.6
Leppert, M.7
Fink, J.K.8
-
12
-
-
0033551507
-
Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q
-
Hedera P, DiMauro S, Bonilla S, Wald J, Eldevik OP, Fink JK. 1999b. Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology 53:44-49
-
(1999)
Neurology
, vol.53
, pp. 44-49
-
-
Hedera, P.1
DiMauro, S.2
Bonilla, S.3
Wald, J.4
Eldevik, O.P.5
Fink, J.K.6
-
13
-
-
0031960716
-
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p
-
Heinzlef O, Paternotte C, Mahieux F, Prud'homme JF, Dien J, Madigand M, Pouget J, Weissenbach J, Roullet, Hazan J. 1998. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 35:89-93
-
(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
Roullet9
Hazan, J.10
-
14
-
-
0028145138
-
Linkage of pure autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
-
Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Bem Hamida M, Siddique T. 1994. Linkage of pure autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Molec Genet 3:1263-1267
-
(1994)
Hum Molec 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
Bem Hamida, M.8
Siddique, T.9
-
15
-
-
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. 1994. X-linked spastic Paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet 7:402-407.
-
(1994)
Nature Genet
, vol.7
, pp. 402-407
-
-
Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
-
16
-
-
0023634009
-
Etiological heterogeneity in X-linked spastic paraplegia
-
Keppen LD, Leppert MF, O'Connell PO, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R. 1987. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41:933-943
-
(1987)
Am J Hum Genet
, vol.41
, pp. 933-943
-
-
Keppen, L.D.1
Leppert, M.F.2
O'Connell, P.O.3
Nakamura, Y.4
Stauffer, D.5
Lathrop, M.6
Lalouel, J.M.7
White, R.8
-
17
-
-
0033551536
-
Genetic localization of new locus for recessive spastic paraplegia to 15q13-15
-
Martinez-Murillo F, Kobayashy H, Pegoraro E, Galluzzi G, Crell G, Mariani C, Farina E, Marks H, Ricci E, Alfonso G, Pauli R, Hoffman EP. 1999. Genetic localization of new locus for recessive spastic paraplegia to 15q13-15. Neurology 53:5-56
-
(1999)
Neurology
, vol.53
, pp. 5-56
-
-
Martinez-Murillo, F.1
Kobayashy, H.2
Pegoraro, E.3
Galluzzi, G.4
Crell, G.5
Mariani, C.6
Farina, E.7
Marks, H.8
Ricci, E.9
Alfonso, G.10
Pauli, R.11
Hoffman, E.P.12
-
18
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S, Dykes D, Polesky H. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
19
-
-
0030807772
-
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24
-
Nielsen JE, Koefoed P, Abell K, Hasholt L, Eiberg H, Fenger K, Niebuhr E, Asger Sorensen S. 1997. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24. Hum Molec Genet 6:1811-1816
-
(1997)
Hum Molec Genet
, vol.6
, pp. 1811-1816
-
-
Nielsen, J.E.1
Koefoed, P.2
Abell, K.3
Hasholt, L.4
Eiberg, H.5
Fenger, K.6
Niebuhr, E.7
Asger Sorensen, S.8
-
20
-
-
0030872016
-
Differential association of syntrophin pairs with the dystrophin complex
-
Peters MF, Adams ME, Froehner SC. 1997. Differential association of syntrophin pairs with the dystrophin complex. J. Cell Biol 138:81-93.
-
(1997)
J. Cell Biol
, vol.138
, pp. 81-93
-
-
Peters, M.F.1
Adams, M.E.2
Froehner, S.C.3
-
21
-
-
0030977483
-
Pure hereditary spastic paraplegia
-
Reid E. 1997. Pure hereditary spastic paraplegia. J Med Genet 34:499-503
-
(1997)
J Med Genet
, vol.34
, pp. 499-503
-
-
Reid, E.1
-
22
-
-
0033544418
-
Autosomal dominant spastic paraplegia: Refined SPg8 locus and additional genetic heterogeneity
-
Reid E, Dearlove AM, Whiteford ML, Rhodes M, Rubinsztein DC. 1999a. Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. Neurology 53:1844-1849
-
(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
-
23
-
-
0033362081
-
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13 and evidence for further genetic heterogeneity
-
Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. 1999b. A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13 and evidence for further genetic heterogeneity. Am J Hum Genet 65:757-763
-
(1999)
Am J Hum Genet
, vol.65
, pp. 757-763
-
-
Reid, E.1
Dearlove, A.M.2
Rhodes, M.3
Rubinsztein, D.C.4
-
24
-
-
26144465137
-
A new X-linked form of pure spastic paraplegia or a novel mutation in the proteolipid (PLP) protein gene?
-
Rocco P, Passos-Bueno MR, Marie SK, Cambi F, Zatz M. 1998. A new X-linked form of pure spastic paraplegia or a novel mutation in the proteolipid (PLP) protein gene? Am J Hum Genet 63:A306.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Rocco, P.1
Passos-Bueno, M.R.2
Marie, S.K.3
Cambi, F.4
Zatz, M.5
-
25
-
-
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 JM, Lemerrer M, Gil R, Boespflugtanguy O. 1994. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet 6:257-262
-
(1994)
Nature Genet
, vol.6
, pp. 257-262
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
Rozet, J.M.4
Lemerrer, M.5
Gil, R.6
Boespflugtanguy, O.7
-
26
-
-
4244115383
-
An autosomal form of dominant familial spastic paraplegia affecting almost exclusively males
-
Zatz M, Marie SKM, Passos-Bueno MR, Ungar D. 1995. An autosomal form of dominant familial spastic paraplegia affecting almost exclusively males. Am J Hum Genet 57:A106.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Zatz, M.1
Marie, S.K.M.2
Passos-Bueno, M.R.3
Ungar, D.4
-
27
-
-
0017126169
-
X-linked recessive type of pure spastic paraplegia in a large pedigree: Absence of detectable linkage with Xg
-
Zatz M, Penha-Serrano C, Otto PA. 1976. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 13:217-222.
-
(1976)
J Med Genet
, vol.13
, pp. 217-222
-
-
Zatz, M.1
Penha-Serrano, C.2
Otto, P.A.3
|