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The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
Vacchiano, Veria; Caporali, Leonardo; La Morgia, Chiara; Carbonelli, Michele; Amore, Giulia; Bartolomei, Ilaria; Cascavilla, Maria Luisa; Barboni, Piero; Lamperti, Costanza; Catania, Alessia; Chan, Jane W; Karanja, Rustum; Sadun, Alfredo A; Liguori, Rocco; Bianchi, Andrea; Gavazzi, Gioele; Mascalchi, Mario; Salvi, Fabrizio; Carelli, Valerio.
Affiliation
  • Vacchiano V; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Amore G; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Bartolomei I; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Cascavilla ML; IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Barboni P; IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Lamperti C; Unit of genetic and neurogenetic, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
  • Catania A; Unit of genetic and neurogenetic, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
  • Chan JW; Department of Ophthalmology, Doheny Eye Institute, University of California Los Angeles (UCLA), Los Angeles, CA, United States.
  • Karanja R; Department of Ophthalmology, Doheny Eye Institute, University of California Los Angeles (UCLA), Los Angeles, CA, United States.
  • Sadun AA; Department of Ophthalmology, Doheny Eye Institute, University of California Los Angeles (UCLA), Los Angeles, CA, United States.
  • Liguori R; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Bianchi A; Neuroradiology Unit, Careggi University Hospital, Florence, Italy.
  • Gavazzi G; IRCCS, SDN, Naples, Italy.
  • Mascalchi M; Neuroradiology Research Program at Meyer Children Hospital, Florence, Italy; "Mario Serio" Department of Clinical and Experimental Biomedical Sciences, University of Florence, Florence, Italy.
  • Salvi F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
  • Carelli V; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. Electronic address: valerio.carelli@unibo.it.
Mitochondrion ; 60: 142-149, 2021 09.
Article in En | MEDLINE | ID: mdl-34390870
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Optic Atrophy, Hereditary, Leber Limits: Adult / Aged / Female / Humans / Male Language: En Journal: Mitochondrion Year: 2021 Document type: Article Affiliation country: Italia Country of publication: Países Bajos
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Optic Atrophy, Hereditary, Leber Limits: Adult / Aged / Female / Humans / Male Language: En Journal: Mitochondrion Year: 2021 Document type: Article Affiliation country: Italia Country of publication: Países Bajos