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Regulación del metabolismo neuronal. Papel de la actividad sináptica e implicación en la fisiopatología del síndrome de Leigh

• Authors : Tena Morraja, Paula; University/Department: Universitat de Barcelona. Departament de Biologia Cel·lular, Fisiologia i Immunologia; ...

Subjects: Sinapsi; Sinapsis; Synapses

• Source: TDX (Tesis Doctorals en Xarxa)

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Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response

• Authors : van de Wal, Melissa A.E.; Doornbos, Cenna; Bibbe, Janne M.

Subjects: Brain; Fatty acids; Leigh syndrome

• Source: ISSN: 1570-9639

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Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review.

• Authors : Liao, Yashi¹ (AUTHOR); Lai, Yaxin² (AUTHOR); Chen, Xinxin¹ (AUTHOR)

• Source: BMC Neurology. 3/26/2025, Vol. 25 Issue 1, p1-7. 7p.

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Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.

• Authors : Shi, YuZhi¹ (AUTHOR); Chen, Bin¹ (AUTHOR); Niu, SongTao¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/8/2025, Vol. 20 Issue 1, p1-11. 11p.

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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

• Authors : Ng, Yi Shiau; Lax, Nichola Z.; Maddison, Paul

Subjects: Heteroplasmy; Lactic acidosis and stroke-like episodes (MELAS); Leigh syndrome (LS)

• Source: Ng , Y S , Lax , N Z , Maddison , P , Alston , C L , Blakely , E L , Hepplewhite , P D , Riordan , G , Meldau , S , Chinnery , P F , Pierre , G , Chronopoulou , E , Du , A , Hughes , I , Morris , A A

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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

• Authors : Ng, YS; Lax, NZ; Maddison, P

Subjects: Heteroplasmy; Lactic acidosis and stroke-like episodes (MELAS); Leigh syndrome (LS)

• Source: EBioMedicine , 30 pp. 86-93. (2018)

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Contribution of neuroinflammation to the pathology of the Ndufs4 KO mouse model of Leigh syndrome

• Authors : Aguilar Ludwig, Kevin;

Subjects: Neuroinflamació; Neuroinflamación; Neuroinflammation616.8

• Source: TDX (Tesis Doctorals en Xarxa)

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Estudi del paper de la disfunció mitocondrial en neurones CCK i PVALB

• Authors : Urpi Badell, Andrea;

Subjects: Mitocondri; Mitocondria; Mitochondria616.8

• Source: TDX (Tesis Doctorals en Xarxa)

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LNC-ing Genetics in Mitochondrial Disease.

• Authors : Kamps, Rick¹ (AUTHOR) ; Robinson, Emma Louise² (AUTHOR)

• Source: Non-Coding RNA. Dec2024, Vol. 10 Issue 6, p57. 9p.

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Estudio del perfil traduccional citosólico y mitocondrial de poblaciones neuronales susceptibles a la deficiencia del complejo I mitocondrial

• Authors : Prada Dacasa, Patricia;

Subjects: Perfil traduccional; Translational profile; Malaltia mitocondrial616.8

• Source: TDX (Tesis Doctorals en Xarxa)

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