Alfredo Brusco

Overview

Best Publications

• Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

  F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  2295
  Citations

• Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

  F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

  540
  Citations

• NT5E mutations and arterial calcifications.

  Cynthia St. Hilaire;Shira G. Ziegler;Thomas C. Markello;Alfredo Brusco

  470
  Citations

• Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

  Daniela Di Bella;Federico Lazzaro;Alfredo Brusco;Massimo Plumari

  365
  Citations

• COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

  Ilaria Longo;Paola Porcedda;Francesca Mari;Daniela Giachino

  282
  Citations

• Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

  Thiébaut-Noël Willig;Natalia Draptchinskaia;Irma Dianzani;Sarah Ball

  275
  Citations

• ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

  Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

  268
  Citations

• AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

  Vincenzo Salpietro;Vincenzo Salpietro;Vincenzo Salpietro;Christine L Dixon;Hui Guo;Hui Guo;Oscar D Bello

  244
  Citations

• Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.

  Maria Clara Bonaglia;Roberto Giorda;Silvana Beri;Cristina De Agostini

  202
  Citations

• Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

  Sophie Tezenas Du Montcel;Sophie Tezenas Du Montcel;Alexandra Durr;Peter Bauer;Karla P. Figueroa

  194
  Citations

• Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

  Alfredo Brusco;Cinzia Gellera;Claudia Cagnoli;Alessandro Saluto

  193
  Citations

• Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

  Stephan Klebe;Christel Depienne;Sylvie Gerber;Georges Challe

  184
  Citations

• CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

  Flora Tassone;John Adams;Elizabeth M. Berry-Kravis;Susannah S. Cohen

  183
  Citations

• A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

  Elisa Giorgio;Daniel Robyr;Malte Spielmann;Enza Ferrero

  160
  Citations

• SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2

  Claudia Cagnoli;Caterina Mariotti;Franco Taroni;Marco Seri

  156
  Citations

• ELOVL5 mutations cause spinocerebellar ataxia 38.

  Eleonora Di Gregorio;Barbara Borroni;Elisa Giorgio;Daniela Lacerenza

  138
  Citations

• An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

  Alessandro Saluto;Alessandro Brussino;Flora Tassone;Carlo Arduino

  132
  Citations

• A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

  Marie M Coutelier;Iulia I Blesneac;Arnaud A Monteil;Marie Lorraine M.L. Monin

  111
  Citations

• Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

  Claudia Cagnoli;Giovanni Stevanin;Alessandro Brussino;Marco Barberis

  89
  Citations

• Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

  Suran Nethisinghe;Wei N. Lim;Heather Ging;Anna Zeitlberger

  19
  Citations