Friedreich ataxia—update on pathogenesis and possible therapies Max VonckenPanos IoannouMartin B. Delatycki Review Article 19 December 2003 Pages: 1 - 8
Genetic and environmental factors in the pathogenesis of Huntington’s disease Anton van DellenAnthony J. Hannan Review Article 24 January 2004 Pages: 9 - 17
Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds Petra SanderHenning HamannTosso Leeb Original Article 15 January 2004 Pages: 19 - 25
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families Nacim LouhichiChahnez TrikiFaiza Fakhfakh Original Article 02 December 2003 Pages: 27 - 34
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor Mazal KarpatiEphraim GazitLeah Peleg Original Article 27 November 2003 Pages: 35 - 40
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy Wenli GuThomas SanderOrtrud K. Steinlein Original Article 19 September 2003 Pages: 41 - 44
Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study Margaret A. Pericak-VanceJackie B. RimmlerFrancoise Clerget-Darpoux Original Article 01 November 2003 Pages: 45 - 48
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus M. MugliaC. CriscuoloA. Quattrone Original Article 05 December 2003 Pages: 49 - 54
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2 Sibylle JakubiczkaStefan VielhaberPeter Wieacker Original Article 10 December 2003 Pages: 55 - 59
Sulfite and base for the treatment of familial amyloidotic polyneuropathy: two additive approaches to stabilize the conformation of human amyloidogenic transthyretin Klaus AltlandPia WinterOle Suhr Original Article 08 October 2003 Pages: 61 - 67
Novel splice site CACNA1A mutation causing episodic ataxia type 2 M. A. KaunistoH. HarnoM. Wessman Short Communication 07 October 2003 Pages: 69 - 73
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan Masahiko YamamotoTsuyoshi YoshiharaGen Sobue Letter to the Editors 29 October 2003 Pages: 75 - 77
Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family R. RademakersM. Van den BroeckM. Cruts Letter to the Editors 08 October 2003 Pages: 79 - 80
Mutation analysis of CBL-C and SPRED3 on 19q in human glioblastoma Masahiro MizoguchiCatherine L. NuttDavid N. Louis Letter to the Editors 14 November 2003 Pages: 81 - 82