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Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission.
Tolomeo, Deborah; Rubegni, Anna; Nesti, Claudia; Barghigiani, Melissa; Battini, Roberta; D'Amore, Francesca; Doccini, Stefano; Donati, Maria Alice; Galatolo, Daniele; Giglio, Sabrina; Guarducci, Silvia; Pantaleo, Marilena; Pasquariello, Rosa; Procopio, Elena; Pochiero, Francesca; Tessa, Alessandra; Santorelli, Filippo M M.
Affiliation
  • Tolomeo D; Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy.
  • Rubegni A; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  • Nesti C; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  • Barghigiani M; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  • Battini R; Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy.
  • D'Amore F; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  • Doccini S; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  • Donati MA; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
  • Galatolo D; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  • Giglio S; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy.
  • Guarducci S; Unit of Medical Genetics, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
  • Pantaleo M; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy.
  • Pasquariello R; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy.
  • Procopio E; Neurology, IRCCS Fondazione Stella Maris, Pisa, Toscana, Italy.
  • Pochiero F; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
  • Tessa A; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
  • Santorelli FMM; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
J Med Genet ; 58(8): 543-546, 2021 08.
Article in En | MEDLINE | ID: mdl-34135091
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Uniparental Disomy / Mitochondria Limits: Child / Humans Language: En Journal: J Med Genet Year: 2021 Document type: Article Affiliation country: Italia
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Uniparental Disomy / Mitochondria Limits: Child / Humans Language: En Journal: J Med Genet Year: 2021 Document type: Article Affiliation country: Italia