Results
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41.
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Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. [electronic resource] by
- Heinzlef, O
- Paternotte, C
- Mahieux, F
- Prud'homme, J F
- Dien, J
- Madigand, M
- Pouget, J
- Weissenbach, J
- Roullet, E
- Hazan, J
Producer: 19980423
In:
Journal of medical genetics vol. 35
Availability: No items available.
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42.
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43.
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44.
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First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. [electronic resource] by
- Baulac, S
- Huberfeld, G
- Gourfinkel-An, I
- Mitropoulou, G
- Beranger, A
- Prud'homme, J F
- Baulac, M
- Brice, A
- Bruzzone, R
- LeGuern, E
Producer: 20010531
In:
Nature genetics vol. 28
Availability: No items available.
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45.
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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. [electronic resource] by
- Fischer, J
- Faure, A
- Bouadjar, B
- Blanchet-Bardon, C
- Karaduman, A
- Thomas, I
- Emre, S
- Cure, S
- Ozgüc, M
- Weissenbach, J
- Prud'homme, J F
Producer: 20000420
In:
American journal of human genetics vol. 66
Availability: No items available.
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46.
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Mutations in the gene encoding SLURP-1 in Mal de Meleda. [electronic resource] by
- Fischer, J
- Bouadjar, B
- Heilig, R
- Huber, M
- Lefèvre, C
- Jobard, F
- Macari, F
- Bakija-Konsuo, A
- Ait-Belkacem, F
- Weissenbach, J
- Lathrop, M
- Hohl, D
- Prud'homme, J F
Producer: 20010705
In:
Human molecular genetics vol. 10
Availability: No items available.
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47.
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A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. [electronic resource] by
- Stevanin, G
- Paternotte, C
- Coutinho, P
- Klebe, S
- Elleuch, N
- Loureiro, J L
- Denis, E
- Cruz, V T
- Dürr, A
- Prud'homme, J-F
- Weissenbach, J
- Brice, A
- Hazan, J
Producer: 20070621
In:
Neurology vol. 68
Availability: No items available.
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48.
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A radiation hybrid map of the human genome. [electronic resource] by
- Gyapay, G
- Schmitt, K
- Fizames, C
- Jones, H
- Vega-Czarny, N
- Spillett, D
- Muselet, D
- Prud'homme, J F
- Dib, C
- Auffray, C
- Morissette, J
- Weissenbach, J
- Goodfellow, P N
Producer: 19970113
In:
Human molecular genetics vol. 5
Availability: No items available.
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49.
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Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. [electronic resource] by
- Sáenz, A
- Galán, J
- Caloustian, C
- Lorenzo, F
- Márquez, C
- Rodríguez, N
- Jiménez, M D
- Poza, J J
- Cobo, A M
- Grid, D
- Prud'homme, J F
- López de Munain, A
Producer: 19990915
In:
Archives of neurology vol. 56
Availability: No items available.
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50.
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Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. [electronic resource] by
- Lefèvre, C
- Jobard, F
- Caux, F
- Bouadjar, B
- Karaduman, A
- Heilig, R
- Lakhdar, H
- Wollenberg, A
- Verret, J L
- Weissenbach, J
- Ozgüc, M
- Lathrop, M
- Prud'homme, J F
- Fischer, J
Producer: 20011207
In:
American journal of human genetics vol. 69
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51.
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Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. [electronic resource] by
- Poza, J J
- Sáenz, A
- Martínez-Gil, A
- Cheron, N
- Cobo, A M
- Urtasun, M
- Martí-Massó, J F
- Grid, D
- Beckmann, J S
- Prud'homme, J F
- López de Munain, A
Producer: 19990329
In:
Annals of neurology vol. 45
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52.
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Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. [electronic resource] by
- Coutinho, P
- Barros, J
- Zemmouri, R
- Guimarães, J
- Alves, C
- Chorão, R
- Lourenço, E
- Ribeiro, P
- Loureiro, J L
- Santos, J V
- Hamri, A
- Paternotte, C
- Hazan, J
- Silva, M C
- Prud'homme, J F
- Grid, D
Producer: 19990915
In:
Archives of neurology vol. 56
Availability: No items available.
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53.
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Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. [electronic resource] by
- Dürr, A
- Davoine, C S
- Paternotte, C
- von Fellenberg, J
- Cogilinicean, S
- Coutinho, P
- Lamy, C
- Bourgeois, S
- Prud'homme, J F
- Penet, C
- Mas, J L
- Burgunder, J M
- Hazan, J
- Weissenbach, J
- Brice, A
- Fontaine, B
Producer: 19970106
In:
Brain : a journal of neurology vol. 119 ( Pt 5)
Availability: No items available.
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54.
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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. [electronic resource] by
- Hazan, J
- Fonknechten, N
- Mavel, D
- Paternotte, C
- Samson, D
- Artiguenave, F
- Davoine, C S
- Cruaud, C
- Dürr, A
- Wincker, P
- Brottier, P
- Cattolico, L
- Barbe, V
- Burgunder, J M
- Prud'homme, J F
- Brice, A
- Fontaine, B
- Heilig, B
- Weissenbach, J
Producer: 19991207
In:
Nature genetics vol. 23
Availability: No items available.
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55.
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No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures. [electronic resource] by
- Windemuth, C
- Schulz, H
- Saar, K
- Gennaro, E
- Bianchi, A
- Zara, F
- Bulteau, C
- Kaminska, A
- Ville, D
- Cieuta, C
- Nabbout-Tarantino, R
- Prud'homme, J-F
- Dulac, O
- Bate, L
- Gardiner, R M
- Lindhout, D
- Wienker, T F
- Janz, D
- Sander, T
Producer: 20030423
In:
Epilepsy research vol. 51
Availability: No items available.
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56.
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European genetic study on rheumatoid arthritis: is there a linkage of the interleukin-1 (IL-1), IL-10 or IL-4 genes to RA? [electronic resource] by
- Barrera, P
- Fauré, S
- Prud'homme, J F
- Balsa, A
- Migliorini, P
- Chimenti, D
- Radstake, T R
- van de Putte, L B
- Pascual-Salcedo, D
- Westhovens, R
- Maenaut, K
- Alves, H
- Lopes-Vaz, A
- Stravopoulos, C
- Spyropoulou, M
- Fritz, P
- Bardin, T
- Charron, D
- Lepage, V
- Martinez, M
- Cornélis, F
Producer: 20020604
In:
Clinical and experimental rheumatology vol. 19
Availability: No items available.
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57.
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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. [electronic resource] by
- Fonknechten, N
- Mavel, D
- Byrne, P
- Davoine, C S
- Cruaud, C
- Bönsch, D
- 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
- Dürr, A
- Hazan, J
Producer: 20000414
In:
Human molecular genetics vol. 9
Availability: No items available.
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58.
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Association of rheumatoid arthritis with an amino acid allelic variation of the T cell receptor. [electronic resource] by
- Cornélis, F
- Hardwick, L
- Flipo, R M
- Martinez, M
- Lasbleiz, S
- Prud'homme, J F
- Tran, T H
- Walsh, S
- Delaye, A
- Nicod, A
- Loste, M N
- Lepage, V
- Gibson, K
- Pile, K
- Djoulah, S
- Danzé, P M
- Lioté, F
- Charron, D
- Weissenbach, J
- Kuntz, D
- Bardin, T
- Wordsworth, B P
Producer: 19970908
In:
Arthritis and rheumatism vol. 40
Availability: No items available.
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59.
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Noninherited maternal antigens do not play a role in rheumatoid arthritis susceptibility in Europe. European Consortium on Rheumatoid Arthritis Families. [electronic resource] by
- Barrera, P
- Balsa, A
- Alves, H
- Westhovens, R
- Maenaut, K
- Cornélis, F
- Fritz, P
- Bardin, T
- de Almeida, G
- Lopes-Vaz, A
- Pascual Salcedo, D
- de la Concha, E G
- Radstake, T R
- van de Putte, L B
- Migliorini, P
- Prud'homme, J F
- Charron, D
- Spyropoulou, M
- Mendes, A
- Spaepen, M
- Martinez, M
- Lepage, V
- Stravopoulos, C
Producer: 20000518
In:
Arthritis and rheumatism vol. 43
Availability: No items available.
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60.
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Genome search for susceptibility loci of common idiopathic generalised epilepsies. [electronic resource] by
- Sander, T
- Schulz, H
- Saar, K
- Gennaro, E
- Riggio, M C
- Bianchi, A
- Zara, F
- Luna, D
- Bulteau, C
- Kaminska, A
- Ville, D
- Cieuta, C
- Picard, F
- Prud'homme, J F
- Bate, L
- Sundquist, A
- Gardiner, R M
- Janssen, G A
- de Haan, G J
- Kasteleijn-Nolst-Trenité, D G
- Bader, A
- Lindhout, D
- Riess, O
- Wienker, T F
- Janz, D
- Reis, A
Producer: 20000901
In:
Human molecular genetics vol. 9
Availability: No items available.
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