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1 . Academic Journal
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume
저자
by
Cinzia Bocca
;
Judith Kouassi-Nzoughet
;
Juan Manuel Chao de la Barca
;
Dominique Bonneau
;
Christophe Verny
, et al.
소스
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-3 (2024)
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7 . Academic Journal
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
저자
by
Lindsey Van Haute
;
Emily O’Connor
;
Héctor Díaz-Maldonado
;
Benjamin Munro
;
Kiran Polavarapu
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
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7 . Academic Journal
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
저자
by
Frédéric Tran Mau-Them
;
Julian Delanne
;
Anne-Sophie Denommé-Pichon
;
Hana Safraou
;
Ange-Line Bruel
, et al.
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Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
저자
by
Estelle Colin
;
Yannis Duffourd
;
Martin Chevarin
;
Emilie Tisserant
;
Simon Verdez
, et al.
소스
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
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7 . Academic Journal
ACO2 clinicobiological dataset with extensive phenotype ontology annotation
저자
by
Khadidja Guehlouz
;
Thomas Foulonneau
;
Patrizia Amati-Bonneau
;
Majida Charif
;
Estelle Colin
, et al.
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Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
저자
by
Elise Riquin
;
Magalie Barth
;
Thomas Le Nerzé
;
Natwin Pasquini
;
Clement Prouteau
, et al.
소스
Frontiers in Psychiatry, Vol 13 (2022)
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7 . Academic Journal
Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
저자
by
Majida Charif
;
Yvette C. Wong
;
Soojin Kim
;
Agnès Guichet
;
Catherine Vignal
, et al.
소스
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Mobile App for Parental Empowerment for Caregivers of Children With Autism Spectrum Disorders: Prospective Open Trial
저자
by
Olivier Bonnot
;
Vladimir Adrien
;
Veronique Venelle
;
Dominique Bonneau
;
Fanny Gollier-Briant
, et al.
소스
JMIR Mental Health, Vol 8, Iss 9, p e27803 (2021)
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7 . Academic Journal
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
저자
by
Elise Riquin
;
Thomas Le Nerzé
;
Natwin Pasquini
;
Magalie Barth
;
Clément Prouteau
, et al.
소스
Frontiers in Psychiatry, Vol 12 (2021)
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7 . Academic Journal
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure
저자
by
Sophie Belal
;
David Goudenège
;
Cinzia Bocca
;
Florent Dumont
;
Juan Manuel Chao De La Barca
, et al.
소스
Biomedicines, Vol 10, Iss 7, p 1665 (2022)
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