Volume 4; Issue 1

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neurogenetics
Volume 4; Issue 1

neurogenetics

Volume 4; Issue 1

1

Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies

Timmerman, Vincent, De Jonghe, Peter, Bellone, Emilia, Mandich, Paola, Cassandrini, Denise, Venken, Koen, Balestra, Piercesare, Di Maria, Emilio, Svaren, John

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 38 KB

english, 2002

2

A typical migraine susceptibility region localizes to chromosome 1q31

Lea, Rod, Shepherd, Graeme, Curtain, Robert, Nyholt, Dale, Quinlan, Sharon, Brimage, Peter, Griffiths, Lyn

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 62 KB

english, 2002

3

Identification of polymorphisms within the bovine prion protein gene (Prnp) by DNA sequencing and genotyping by MALDI-TOF-MS

Schiebel, Katrin, Seeber, Silke, Becker, Cord-Michael, Humeny, Andreas

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 31 KB

english, 2002

4

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family

Bouvagnet, Patrice, Chouery, Eliane, Loiselet, Jacques, Claustres, Mireille, Delague, Val&#x000E9, rie, Salem, Nabiha, Bareil, Corinne, M&#x000E9, garban&#x000E9, , Andr&#x000E9,

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 74 KB

english, 2002

5

Expression of the survival of motor neuron (SMN) gene in primary neurons and increase in SMN levels by activation of theN-methyl-D-aspartate glutamate receptor

Monani, Umrao, A., Burghes, Andreassi, Catia, Patrizi, Anna, Brahe, Christina, Eboli, Maria

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 130 KB

english, 2002

6

A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family

Baysal, Bora, Badner, Judith, Corona, Winston, Ferrell, Robert, Nimgaonkar, Vishwajit, Detera-Wadleigh, Sevilla, Willett-Brozick, Joan

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 265 KB

english, 2002

7

Molecular cell biology of Charcot-Marie-Tooth disease

Berger, Philipp, Young, Peter, Suter, Ueli

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 201 KB

english, 2002

8

Sequence analysis of two nuclear encoded subunits (10 and 51 kDa) of mitochondrial complex I in Parkinson disease

Grasbon-Frodl, Eva, P., Mehraein

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 19 KB

english, 2002