Filippo M. Santorelli

Overview

Best Publications

• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  Giovanni Stevanin;Filippo M. Santorelli;Hamid Azzedine;Hamid Azzedine;Paula Coutinho

  401
  Citations

• COQ2 Nephropathy: A Newly Described Inherited Mitochondriopathy with Primary Renal Involvement

  Francesca Diomedi-Camassei;Silvia Di Giandomenico;Filippo M. Santorelli;Gianluca Caridi

  380
  Citations

• Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

  Temistocle Lo Giudice;Federica Lombardi;Filippo Maria Santorelli;Toshitaka Kawarai

  380
  Citations

• Methylmalonic and propionic aciduria.

  Federica Deodato;Sara Boenzi;Filippo M. Santorelli;Carlo Dionisi-Vici

  341
  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

• Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation.

  Ilka Wittig;Rosalba Carrozzo;Filippo M. Santorelli;Hermann Schägger

  297
  Citations

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

  Giovanni Stevanin;Hamid Azzedine;Paola Denora;Amir Boukhris

  283
  Citations

• Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

  Sylvain Hanein;Elodie Martin;Elodie Martin;Amir Boukhris;Paula Byrne

  259
  Citations

• Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

  Eleonore Eymard-Pierre;Gaetan Lesca;Sandra Dollet;Filippo Maria Santorelli

  257
  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

• SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

  Rosalba Carrozzo;Carlo Dionisi-Vici;Ulrike Steuerwald;Simona Lucioli

  246
  Citations

• Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

  C. Sobreira;M. Hirano;S. Shanske;R. K. Keller

  239
  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

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

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

  223
  Citations

• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  Christelle Tesson;Magdalena Nawara;Magdalena Nawara;Magdalena Nawara;Mustafa A.M. Salih;Rodrigue Rossignol

  219
  Citations

• A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

  Robert W Taylor;Carla Giordano;Mercy M Davidson;Giulia d’Amati

  211
  Citations

• Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

  Michelangelo Mancuso;Daniele Orsucci;Corrado Angelini;Enrico Bertini

  207
  Citations

• A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

  G. Silvestri;F. M. Santorelli;S. Shanske;C. B. Whitley

  205
  Citations

• Congenital muscular dystrophies with defective glycosylation of dystroglycan A population study

  Eugenio Maria Mercuri;Salvatore Messina;Cristina Bruno;M Mora

  202
  Citations

• Multiple mitochondria1 DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

  S. Bohlega;K. Tanji;F. M. Santorelli;M. Hirano

  202
  Citations