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A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.
Published in:
European Journal of Neurology, 1999, v. 6, n. 5, p. 605, doi. 10.1046/j.1468-1331.1999.650605.x
By:
- Markova, Elena D.;
- Slominsky, Pyotr A.;
- Illarioshkin, Sergei N.;
- Miklina, Natalya I.;
- Popova, Svetlana N.;
- Limborska, Svetlana A.;
- Ivanova-Smolenskaya, Irina A.
Publication type:
Article
X-linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq.
Published in:
Annals of Neurology, 1996, v. 40, n. 1, p. 75, doi. 10.1002/ana.410400113
By:
- Illarioshkin, Sergei N.;
- Tanaka, Hajime;
- Tsuji, Shoji;
- Markova, Elena D.;
- Nikolskay, Natalya N.;
- Ivanova-Samolenskay, Irina A.
Publication type:
Article
Trinucleotide repeat length and rate of progression of Huntington's disease.
Published in:
Annals of Neurology, 1994, v. 36, n. 4, p. 630, doi. 10.1002/ana.410360412
By:
- Illarioshkin, Sergei N.;
- Igarashi, Shuichi;
- Onodera, Osamu;
- Markova, Elena D.;
- Nikolskaya, Natalya N.;
- Tanaka, Hajime;
- Chabrashwili, Tina Z.;
- Insarova, Nina G.;
- Endo, Kotaro;
- Ivanova-Smolenskaya, Irina A.;
- Tsuji, Shoji
Publication type:
Article
Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.
Published in:
Movement Disorders, 2003, v. 18, n. 8, p. 914, doi. 10.1002/mds.10467
By:
- Illarioshkin, Sergei N.;
- Periquet, Magali;
- Rawal, Nina;
- Lücking, Christoph B.;
- Zagorovskaya, Tatyana B.;
- Slominsky, Pyotr A.;
- Miloserdova, Olga V.;
- Markova, Elena D.;
- Limborska, Svetlana A.;
- Ivanova-Smolenskaya, Irina A.;
- Brice, Alexis
Publication type:
Article
Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
Published in:
2000
By:
- Illarioshkin, Sergei N.;
- Ivanova-Smolenskaya, Irina A.;
- Rahmonov, Rahmatullo A.;
- Markova, Elena D.;
- Stevanin, Giovanni;
- Brice, Alexis;
- Illarioshkin, S N;
- Ivanova-Smolenskaya, I A;
- Rahmonov, R A;
- Markova, E D;
- Stevanin, G;
- Brice, A
Publication type:
journal article
A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia.
Published in:
Human Mutation, 1999, v. 14, n. 3, p. 269, doi. 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU12>3.0.CO;2-9
By:
- Slominsky, Petr A.;
- Markova, Elena D.;
- Shadrina, Marya I.;
- Illarioshkin, Sergey N.;
- Miklina, Natalia I.;
- Limborska, Svetlana A.;
- Ivanova-Smolenskaya, Irina A.
Publication type:
Article
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 7, p. 1133, doi. 10.1093/hmg/7.7.1133
By:
- Klein, Christine;
- Brin, Mitchell F.;
- de Leon, Deborah;
- Limborska, Svetlana A.;
- Ivanova‐Smolenskaya, Irina A.;
- Bressman, Susan B.;
- Friedman, Andrzej;
- Markova, Elena D.;
- Risch, Neil J.;
- Breakefield, Xandra O.;
- Ozelius, Laurie J.
Publication type:
Article

Found: 7

A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.

X-linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq.

Trinucleotide repeat length and rate of progression of Huntington's disease.

Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism.

Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.

A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia.

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.