Patricia L. Kramer

Overview

Best Publications

• Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

  Adam C. Naj;Gyungah Jun;Gary W. Beecham;Li-San Wang

  2280
  Citations

• 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

• Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

  David L. Browne;Stephen T. Gancher;John G. Nutt;Ewout R. P. Brunt

  952
  Citations

• Autosomal Dominant Congenital Cataract Associated with a Missense Mutation in the Human Alpha Crystallin Gene CRYAA

  Michael Litt;Patricia Kramer;Dante M. LaMorticella;William Murphey

  630
  Citations

• PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

  Neil V Morgan;Shawn K Westaway;Jenny E V Morton;Allison Gregory

  582
  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

• Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease risk loci and reveals interactions with APOE genotypes.

  Gyungah Jun;Adam C. Naj;Gary W. Beecham;Li San Wang

  475
  Citations

• Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

  David C. Whitcomb;Jessica LaRusch;Alyssa M. Krasinskas;Lambertus Klei

  405
  Citations

• Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

  Gary W. Beecham;Kara Hamilton;Adam C. Naj;Eden R. Martin

  352
  Citations

• Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers.

  Peter P. Pramstaller;Michael G. Schlossmacher;Michael G. Schlossmacher;Thomas S. Jacques;Francesco Scaravilli

  331
  Citations

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

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

  328
  Citations

• Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2

  Michael Litt;Roque Carrero-Valenzuela;Dante M. LaMorticella;Dennis W. Schultz

  323
  Citations

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

  Katja Hedrich;Cordula Eskelson;Beth Wilmot;Karen Marder

  311
  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

• Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

  M K Wirtz;J R Samples;P L Kramer;K Rust

  271
  Citations

• Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

  Giovanni Coppola;Subashchandrabose Chinnathambi;Jason Ji Yong Lee;Beth A. Dombroski

  254
  Citations

• GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.

  Mary K. Wirtz;John R. Samples;Kristal Rust;Jennifer Lie

  251
  Citations

• Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.

  Petra M. Jakobs;John F. Hess;Paul G. FitzGerald;Patricia Kramer

  237
  Citations

• Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.

  Joanne Chung On Leung;Christine Klein;Jennifer Friedman;Peter Vieregge

  235
  Citations

• Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.

  L. Almasy;S. B. Bressman;D. Raymond;P. L. Kramer

  222
  Citations