Brashear, Allison, Dobyns, William B., De Carvalho Aguiar, Patricia, Borg, Michel, Frijns, C. J. M., Gollamudi, Seema, ...
Rapid-onset dystonia–parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. We obtained clinical...
Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...
Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (ΔGAG) deletion, underlies dominantly inherited cases...
Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...
Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a three base pair (ΔGAG) deletion, underlies dominantly inherited...
Hedrich, Katja, Kann, Martin, Lanthaler, Andrea J., Dalski, Andreas, Eskelson, Cordula, Landt, Olfert, ...
Early-onset parkinsonism (EOP) may be associated with different mutations in the parkin gene, including exon deletions and duplications. To test for gene dosage alterations, we developed a new method...
Hewett, Jeffrey, Gonzalez-Agosti, Charo, Slater, Damien, Ziefer, Philipp, Li, Sang, Bergeron, Daniele, ...
Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the basal ganglia, without apparent neuronal degeneration. Recent cloning of...
Ozelius, Laurie J., Hewett, Jeffrey, Kramer, Patricia, Bressman, Susan B., Shalish, Christo, De Leon, Deborah, ...
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
Klein, Christine, Brin, Mitchell F., Kramer, Patricia, Sena-Esteves, Miguel, De Leon, Deborah, Doheny, Dana, ...
Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Although various...
A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families
Klein, Christine, Schilling, Karla, Saunders-Pullman, Rachel J., Garrels, Jennifer, Breakefield, Xandra O., Brin, Mitchell F., ...
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on...
Ozelius, Laurie J., Kramer, Patricia L., De Leon, Deborah, Risch, Neil, Bressman, Susan B., Schuback, Deborah E., ...
The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34....
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
Klein, Christine, Brin, Mitchell F., Kramer, Patricia, Sena-Esteves, Miguel, De Leon, Deborah, Doheny, Dana, ...
Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Although various...
A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families
Klein, Christine, Schilling, Karla, Saunders-Pullman, Rachel J., Garrels, Jennifer, Breakefield, Xandra O., Brin, Mitchell F., ...
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on...
Ozelius, Laurie J., Kramer, Patricia L., De Leon, Deborah, Risch, Neil, Bressman, Susan B., Schuback, Deborah E., ...
The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34....
Sharma, Nutan, Hewett, Jeffrey, Ozelius, Laurie J., Ramesh, Vijaya, McLean, Pamela J., Breakefield, Xandra O., ...
TorsinA, a novel protein in which a mutation causes dominant, early onset torsion dystonia, may serve as a chaperone for misfolded proteins that require refolding or degradation. It has been...
Ozelius, Laurie J., Foroud, Tatiana, May, Susanne, Senthil, Geetha, Sandroni, Paola, Low, Phillip A., ...
Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the LRRK2 gene are associated with parkinsonian...