G. Auburger

Hereditary early-onset Parkinson's disease caused by mutations in PINK1 (2004)

Valente, E.M., Abou-Sleiman, P.M., Caputo, V., Muqit, M.M.K., Harvey, K., Gispert, S., ...

Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped a locus for a rare familial form of PD to...

Hereditary early-onset parkinson's disease caused by mutations in PINK1 (2004)

Valente, E.M., Abou-Sleiman, P.M., Caputo, V., Muqit, M.M.K., Harvey, K., Gispert, S., ...

Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped a locus for a rare familial form of PD to...

Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance (2003)

Rüb, U., Del Turco, D., Del Tredici, K., Brunt, E. R., Reifenberger, G., ...

In spite of the considerable progress in clinical and molecular research, knowledge regarding brain damage in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) still is limited and the extent to...

Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance (2003)

Rüb, U., Del Turco, D., Del Tredici, K., Brunt, E. R., Reifenberger, G., ...

In spite of the considerable progress in clinical and molecular research, knowledge regarding brain damage in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) still is limited and the extent to...

Absence of Mutation in the {beta}- and {gamma}-Synuclein Genes in Familial Autosomal Dominant Parkinson's Disease (1998)

Lavedan, C., Buchholtz, S., Auburger, G., Albin, R. L., Athanassiadou, A., Blancato, J., ...

Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution (1996)

Leube, B, Rudnicki, D, Ratzlaff, T, Kessler, KR, Benecke, R, Auburger, G

Levels of nerve growth factor and its mRNA in the central nervous system of the rat correlate with cholinergic innervation.

Korsching, S, Auburger, G, Heumann, R, Scott, J, Thoenen, H

The levels of nerve growth factor (NGF) and its mRNA in the rat central nervous system were determined by two-site enzyme immunoassay and quantitative Northern blots, respectively. Relatively high...

Levels of nerve growth factor and its mRNA in the central nervous system of the rat correlate with cholinergic innervation.

Korsching, S, Auburger, G, Heumann, R, Scott, J, Thoenen, H

The levels of nerve growth factor (NGF) and its mRNA in the rat central nervous system were determined by two-site enzyme immunoassay and quantitative Northern blots, respectively. Relatively high...

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, ...

Three large pedigrees of German descent with autosomal dominant "pure" familial spastic paraplegia (FSP) were characterized clinically and genetically. Haplotype and linkage analyses, with...

Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.

Lunkes, A, Hartung, U, Magariño, C, Rodríguez, M, Palmero, A, Rodríguez, L, ...

Mutation detection in Machado-Joseph disease using repeat expansion detection.

Lindblad, K., Lunkes, A., Maciel, P., Stevanin, G., Zander, C., Klockgether, T., ...

BACKGROUND: Several neurological disorders have recently been explained through the discovery of expanded DNA repeat sequences. Among these is Machado-Joseph disease, one of the most common...

Absence of SCA1 mutation in idiopathic cerebellar ataxia.

Klockgether, T, Bürk, K, Schulz, J B, Dichgans, J, Wessel, K, Auburger, G

Primary torsion dystonia: the search for genes is not over

Jarman, P, Del Grosso, N, Valente, E, Leube, B, Cassetta, E, Bentivoglio, A, ...

A GAG deletion in the DYT1 gene accounts for most early, limb onset primary torsion dystonia (PTD). The genetic bases for the more common adult onset and focal PTD are less well delineated. Genetic...