Filippo M. Santorelli

Filippo M. Santorelli publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Filippo M. Santorelli sits on this spectrum.

Filippo M. Santorelli D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Filippo M. Santorelli sits on this spectrum.

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