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PubPharm (234)
21
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
enthalten in:
Neurology. Genetics
| 2022
von
Palombo, F.
|
La Morgia, C.
|
Fiorini, C.
| +5
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22
Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
enthalten in:
Journal of neurology
| 2022
von
Amore, G.
|
Vacchiano, V.
|
La Morgia, C.
| +9
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23
Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
enthalten in:
Journal of neurology
| 2022
von
Amore, G.
|
Vacchiano, V.
|
La Morgia, C.
| +9
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24
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies
enthalten in:
American journal of ophthalmology
| 2022
von
Barboni, P.
|
Amore, G.
|
Cascavilla, M.
| +20
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25
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy
enthalten in:
American journal of ophthalmology
| 2022
von
Carbonelli, M.
|
La Morgia, C.
|
Romagnoli, M.
| +12
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26
TWNK in Parkinson's Disease : A Movement Disorder and Mitochondrial Disease Center Perspective Study
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2022
von
Percetti, M.
|
Franco, G.
|
Monfrini, E.
| +19
CommentIn: Mov Disord. 2022 Nov;37(11):2318-2319. - PMID 36059153
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27
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion
enthalten in:
Nucleic acids research
| 2022
von
Misic, J.
|
Milenkovic, D.
|
Al-Behadili, A.
| +17
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28
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
enthalten in:
Molecular medicine (Cambridge, Mass.)
| 2022
von
Capristo, M.
|
Del Dotto, V.
|
Tropeano, C.
| +7
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29
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial $ tRNA^{Lys} $
enthalten in:
Molecular medicine
| 2022
von
Capristo, M.
|
Del Dotto, V.
|
Tropeano, C.
| +7
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30
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial $ tRNA^{Lys} $
enthalten in:
Molecular medicine
| 2022
von
Capristo, M.
|
Del Dotto, V.
|
Tropeano, C.
| +7
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Brain : a journal of neurology
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American journal of ophthalmology
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GTP Phosphohydrolases
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melanopsin
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