Results
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61.
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Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME). [electronic resource] by
- Labauge, P
- Amer, L O
- Simonetta-Moreau, M
- Attané, F
- Tannier, C
- Clanet, M
- Castelnovo, G
- An-Gourfinkel, I
- Agid, Y
- Brice, A
- Ducros, A
- LeGuern, E
Producer: 20020522
In:
Neurology vol. 58
Availability: No items available.
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62.
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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. [electronic resource] by
- Escayg, A
- MacDonald, B T
- Meisler, M H
- Baulac, S
- Huberfeld, G
- An-Gourfinkel, I
- Brice, A
- LeGuern, E
- Moulard, B
- Chaigne, D
- Buresi, C
- Malafosse, A
Producer: 20000504
In:
Nature genetics vol. 24
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63.
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Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. [electronic resource] by
- Lopes, J
- Ravisé, N
- Vandenberghe, A
- Palau, F
- Ionasescu, V
- Mayer, M
- Lévy, N
- Wood, N
- Tachi, N
- Bouche, P
- Latour, P
- Ruberg, M
- Brice, A
- LeGuern, E
Producer: 19980226
In:
Human molecular genetics vol. 7
Availability: No items available.
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64.
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Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. [electronic resource] by
- Depienne, C
- Trouillard, O
- Saint-Martin, C
- Gourfinkel-An, I
- Bouteiller, D
- Carpentier, W
- Keren, B
- Abert, B
- Gautier, A
- Baulac, S
- Arzimanoglou, A
- Cazeneuve, C
- Nabbout, R
- LeGuern, E
Producer: 20090521
In:
Journal of medical genetics vol. 46
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65.
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Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. [electronic resource] by
- Moore, T
- Hecquet, S
- McLellann, A
- Ville, D
- Grid, D
- Picard, F
- Moulard, B
- Asherson, P
- Makoff, A J
- McCormick, D
- Nashef, L
- Froguel, P
- Arzimanoglou, A
- LeGuern, E
- Bailleul, B
Producer: 20010913
In:
Epilepsy research vol. 46
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66.
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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. [electronic resource] by
- Azzedine, H
- Bolino, A
- Taïeb, T
- Birouk, N
- Di Duca, M
- Bouhouche, A
- Benamou, S
- Mrabet, A
- Hammadouche, T
- Chkili, T
- Gouider, R
- Ravazzolo, R
- Brice, A
- Laporte, J
- LeGuern, E
Producer: 20030701
In:
American journal of human genetics vol. 72
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67.
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Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. [electronic resource] by
- Dubourg, O
- Azzedine, H
- Verny, C
- Durosier, G
- Birouk, N
- Gouider, R
- Salih, M
- Bouhouche, A
- Thiam, A
- Grid, D
- Mayer, M
- Ruberg, M
- Tazir, M
- Brice, A
- LeGuern, E
Producer: 20070315
In:
Neuromolecular medicine vol. 8
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68.
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Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity. [electronic resource] by
- Salih, M A
- Maisonobe, T
- Kabiraj, M
- al Rayess, M
- al-Turaiki, M H
- Akbar, M
- Tahan, A
- Urtizberea, J A
- Grid, D
- Hamadouche, T
- Guilbot, A
- Brice, A
- Leguern, E
Producer: 20000307
In:
Neuromuscular disorders : NMD vol. 10
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69.
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Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. [electronic resource] by
- Picard, F
- Baulac, S
- Kahane, P
- Hirsch, E
- Sebastianelli, R
- Thomas, P
- Vigevano, F
- Genton, P
- Guerrini, R
- Gericke, C A
- An, I
- Rudolf, G
- Herman, A
- Brice, A
- Marescaux, C
- LeGuern, E
Producer: 20000713
In:
Brain : a journal of neurology vol. 123 ( Pt 6)
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70.
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. [electronic resource] by
- Bolino, A
- Muglia, M
- Conforti, F L
- LeGuern, E
- Salih, M A
- Georgiou, D M
- Christodoulou, K
- Hausmanowa-Petrusewicz, I
- Mandich, P
- Schenone, A
- Gambardella, A
- Bono, F
- Quattrone, A
- Devoto, M
- Monaco, A P
Producer: 20000612
In:
Nature genetics vol. 25
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71.
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Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. [electronic resource] by
- Bolino, A
- Levy, E R
- Muglia, M
- Conforti, F L
- LeGuern, E
- Salih, M A
- Georgiou, D M
- Christodoulou, R K
- Hausmanowa-Petrusewicz, I
- Mandich, P
- Gambardella, A
- Quattrone, A
- Devoto, M
- Monaco, A P
Producer: 20000418
In:
Genomics vol. 63
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72.
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EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts. [electronic resource] by
- Gasser, T
- Dichgans, M
- Finsterer, J
- Hausmanowa-Petrusewicz, I
- Jurkat-Rott, K
- Klopstock, T
- LeGuern, E
- Lehesjoki, A E
- Lehmann-Horn, F
- Lynch, T
- Morris, H
- Rossor, M
- Steinlein, O K
- Wood, N
- Zaremba, J
- Zeviani, M
- Zoharn, A
Producer: 20010816
In:
European journal of neurology vol. 8
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73.
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EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. [electronic resource] by
- Gasser, T
- Dichgans, M
- Finsterer, J
- Hausmanowa-Petrusewicz, I
- Jurkat-Rott, K
- Klopstock, T
- Leguern, E
- Lehesjoki, A E
- Lehmann-Horn, F
- Lynch, T
- Morris, H
- Rossor, M
- Steinlein, O K
- Wood, N
- Zaremba, J
- Zeviani, M
- Zoharn, A
Producer: 20011025
In:
European journal of neurology vol. 8
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74.
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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. [electronic resource] by
- Striano, P
- Weber, Y G
- Toliat, M R
- Schubert, J
- Leu, C
- Chaimana, R
- Baulac, S
- Guerrero, R
- LeGuern, E
- Lehesjoki, A-E
- Polvi, A
- Robbiano, A
- Serratosa, J M
- Guerrini, R
- Nürnberg, P
- Sander, T
- Zara, F
- Lerche, H
- Marini, C
Producer: 20120423
In:
Neurology vol. 78
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75.
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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. [electronic resource] by
- Azzedine, H
- Ravisé, N
- Verny, C
- Gabrëels-Festen, A
- Lammens, M
- Grid, D
- Vallat, J M
- Durosier, G
- Senderek, J
- Nouioua, S
- Hamadouche, T
- Bouhouche, A
- Guilbot, A
- Stendel, C
- Ruberg, M
- Brice, A
- Birouk, N
- Dubourg, O
- Tazir, M
- LeGuern, E
Producer: 20060913
In:
Neurology vol. 67
Availability: No items available.
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76.
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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. [electronic resource] by
- Hannibal, M C
- Ruzzo, E K
- Miller, L R
- Betz, B
- Buchan, J G
- Knutzen, D M
- Barnett, K
- Landsverk, M L
- Brice, A
- LeGuern, E
- Bedford, H M
- Worrall, B B
- Lovitt, S
- Appel, S H
- Andermann, E
- Bird, T D
- Chance, P F
Producer: 20090601
In:
Neurology vol. 72
Availability: No items available.
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77.
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Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. [electronic resource] by
- Rauschka, H
- Colsch, B
- Baumann, N
- Wevers, R
- Schmidbauer, M
- Krammer, M
- Turpin, J-C
- Lefevre, M
- Olivier, C
- Tardieu, S
- Krivit, W
- Moser, H
- Moser, A
- Gieselmann, V
- Zalc, B
- Cox, T
- Reuner, U
- Tylki-Szymanska, A
- Aboul-Enein, F
- LeGuern, E
- Bernheimer, H
- Berger, J
Producer: 20060926
In:
Neurology vol. 67
Availability: No items available.
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