Sara Shanske

Overview

Best Publications

• Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

  Carlos T. Moraes;Salvatore Dimauro;Massimo Zeviani;Anne Lombes

  1198
  Citations

• Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

  Ichizo Nishino;Jin Fu;Kurenai Tanji;Takeshi Yamada

  1058
  Citations

• mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

  Carlos T. Moraes;Sara Shanske;Hans Jürgen Tritschler;June R. Aprille

  711
  Citations

• Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

  L C Papadopoulou;C M Sue;M M Davidson;K Tanji

  674
  Citations

• Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

  E. Arnaudo;S. Shanske;S. DiMauro;E.A. Schon

  650
  Citations

• MELAS: Clinical features, biochemistry, and molecular genetics

  E. Ciafaloni;E. Ricci;S. Shanske;C. T. Moraes

  601
  Citations

• Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA

  Shuji Mita;Rosario Rizzuto;Carlos T. Moraes;Sara Shanske

  440
  Citations

• The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

  Filippo M. Santorelli;Sara Shanske;Alfons Macaya;Darryl C. DeVivo

  307
  Citations

• Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

  Carlos T. Moraes;Federica Ciacci;Gabriella Silvestri;Sara Shanske

  306
  Citations

• Risk of developing a mitochondrial DNA deletion disorder

  Patrick F Chinnery;Salvatore DiMauro;Sara Shanske;Eric A Schon

  282
  Citations

• Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

  H.-J. Tritschler;H.-J. Tritschler;F. Andreetta;C. T. Moraes;E. Bonilla

  278
  Citations

• Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993

  Sarah L. White;Veronica R. Collins;Rory Wolfe;Maureen A. Cleary

  277
  Citations

• Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

  G. Silvestri;E. Ciafaloni;F. M. Santorelli;S. Shanske

  251
  Citations

• A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

  Dominic Thyagarajan;Sara Shanske;Marta Vazquez Memije;Darryl Devivo

  248
  Citations

• Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

  Filippo M. Santorelli;Suk Chun Mak;Magda El-Schahawi;Carlo Casali

  237
  Citations

• Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)

  Seiichi Tsujino;Sara Shanske;Salvatore DiMauro

  235
  Citations

• Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (– 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation

  Huie Ml;Chen As;Tsujino S;Shanske S

  235
  Citations

• Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene

  C.M. Sue;K. Tanji;G. Hadjigeorgiou;A.L. Andreu

  224
  Citations

• IDENTIFICATION OF A NOVEL MUTATION IN THE MTDNA ND5 GENE ASSOCIATED WITH MELAS

  Filippo M. Santorelli;Kurenai Tanji;Romana Kulikova;Sara Shanske

  223
  Citations

• A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

  Dominic Thyagarajan;Susan Bressman;Claudio Bruno;Serge Przedborski

  215
  Citations