Maria Teresa Bassi

Overview

Best Publications

• Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

  Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  8488
  Citations

• Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

  Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  895
  Citations

• X-linked situs abnormalities result from mutations in ZIC3

  Marinella Gebbia;Giovanni B. Ferrero;Giuseppe Pilia;Maria T. Bassi

  459
  Citations

• De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

  Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri

  457
  Citations

• Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

  Lídia Feliubadaló;Mariona Font;Jesús Purroy;Ferran Rousaud

  377
  Citations

• Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

  K. Kosaki;M. T. Bassi;R. Kosaki;M. Lewin

  297
  Citations

• Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

  Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  287
  Citations

• Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV

  Maria T. Bassi;Marta Manzoni;Eugenio Monti;Maria T. Pizzo

  287
  Citations

• SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

  Giuseppe Borsani;Maria Teresa Bassi;Maria Pia Sperandeo;Alessandro De Grandi

  275
  Citations

• Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

  M. T. Bassi;M. V. Schiaffino;Alessandra Renieri;F. De Nigris

  246
  Citations

• Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

  Maria Francesca Bedeschi;Maria Clara Bonaglia;Rita Grasso;Alda Pellegri

  214
  Citations

• A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice.

  Smita M. Purandare;Stephanie M. Ware;Kin Ming Kwan;Marinella Gebbia

  198
  Citations

• Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.

  Eugenio Monti;Maria T. Bassi;Nadia Papini;Mirko Riboni

  184
  Citations

• A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

  R Borgatti;C Zucca;A Cavallini;M Ferrario

  183
  Citations

• Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-.

  Maria Teresa Bassi;Emma Gasol;Marta Manzoni;Marta Pineda

  181
  Citations

• Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family.

  E Monti;M.T Bassi;R Bresciani;S Civini

  156
  Citations

• A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

  Mt Bassi;N. Bresolin;A. Tonelli;K. Nazos

  155
  Citations

• Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

  Mariona Font;Lídia Feliubadaló;Xavier Estivill;Virginia Nunes

  152
  Citations

• X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats

  Maria T. Bassi;Rajkumar S. Ramesar;Barbara Caciotti;Ingrid M. Winship

  146
  Citations

• Identification and characterization of AFG3L2, a novel paraplegin-related gene.

  Sandro Banfi;Maria Teresa Bassi;Grazia Andolfi;Anna Marchitiello

  140
  Citations