Laurie J. Ozelius

Overview

Best Publications

• The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

  Laurie J. Ozelius;Jeffrey W. Hewett;Curtis E. Page;Susan B. Bressman

  1202
  Citations

• LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

  Laurie J. Ozelius;Geetha Senthil;Rachel Saunders-Pullman;Erin Ohmann

  839
  Citations

• Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

  B. R. Seizinger;G. A. Rouleau;L. J. Ozelius;A. H. Lane

  752
  Citations

• A Single Nucleotide Polymorphism in the Matrix Metalloproteinase-1 Promoter Creates an Ets Binding Site and Augments Transcription

  Joni L. Rutter;Teresa I. Mitchell;Giovanna Butticè;Jennifer Meyers

  716
  Citations

• Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

  Patricia de Carvalho Aguiar;Patricia de Carvalho Aguiar;Kathleen J Sweadner;John T Penniston;Jacek Zaremba

  603
  Citations

• Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.

  Neil Risch;Neil Risch;Deborah de Leon;Laurie Ozelius;Patricia Kramer

  520
  Citations

• Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

  B.R. Seizinger;G.A. Rouleau;L.J. Ozelius;A.H. Lane

  474
  Citations

• The DYT1 phenotype and guidelines for diagnostic testing

  Susan B Bressman;C Sabatti;Deborah Raymond;D de Leon

  438
  Citations

• Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration

  Jun Mitsui;Takashi Matsukawa;Hiroyuki Ishiura;Yoko Fukuda;Yoko Fukuda

  429
  Citations

• Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

  Tania Fuchs;Sophie Gavarini;Rachel Saunders-Pullman;Rachel Saunders-Pullman;Deborah Raymond

  396
  Citations

• Mutations in GNAL cause primary torsion dystonia.

  Tania Fuchs;Rachel Saunders-Pullman;Rachel Saunders-Pullman;Ikuo Masuho;Marta San Luciano

  344
  Citations

• Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

  Ken Y. Hui;Heriberto Fernandez-Hernandez;Jianzhong Hu;Adam Schaffner

  336
  Citations

• Human gene for torsion dystonia located on chromosome 9q32-q34.

  Laurie Ozelius;Patricia L. Kramer;Carol B. Moskowitz;David J. Kwiatkowski

  328
  Citations

• Distribution, type, and origin of Parkin mutations: Review and case studies

  Katja Hedrich;Cordula Eskelson;Beth Wilmot;Karen Marder

  311
  Citations

• Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis

  BR Seizinger;G Rouleau;LJ Ozelius;AH Lane

  307
  Citations

• Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the Parkin gene

  Ruediger Hilker;Christine Klein;Mehran Ghaemi;Bernhard Kis

  299
  Citations

• The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene

  Allison Brashear;William B. Dobyns;Patricia de Carvalho Aguiar;Michel Borg

  297
  Citations

• Parkin deletions in a family with adult‐onset, tremor‐dominant parkinsonism: Expanding the phenotype

  Christine Klein;Peter P. Pramstaller;Bernhard Kis;Curtis C. Page

  287
  Citations

• DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.

  K. Hedrich;A. Djarmati;N. Schäfer;R. Hering

  281
  Citations

• Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

  Jeffrey Hewett;Charo Gonzalez-Agosti;Damien Slater;Philipp Ziefer

  241
  Citations