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PubPharm (133)
1
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
enthalten in:
Nature communications
| 2024
von
Nashabat, M.
|
Nabavizadeh, N.
|
Saraçoğlu, H.
| +56
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2
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
enthalten in:
Brain : a journal of neurology
| 2023
von
Fiorini, C.
|
Ormanbekova, D.
|
Palombo, F.
| +17
CommentOn: Brain. 2023 Feb 13;146(2):455-460. - PMID 36317462
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3
The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?
enthalten in:
Preprints.org
| 2023
von
Vacchiano, V.
|
Palombo, F.
|
Ormanbekova, D.
| +8
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4
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy
enthalten in:
EMBO molecular medicine
| 2023
von
Southwell, N.
|
Primiano, G.
|
Nadkarni, V.
| +13
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5
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease : a case report
enthalten in:
Frontiers in genetics
| 2023
von
Vacchiano, V.
|
Palombo, F.
|
Ormanbekova, D.
| +8
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6
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy
enthalten in:
EMBO Molecular Medicine
| 2023
von
Southwell, N.
|
Primiano, G.
|
Nadkarni, V.
| +13
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7
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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8
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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9
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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10
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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Journal of neurology
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Brain : a journal of neurology
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Research Support, Non-U.S. Gov't
39
DNA, Mitochondrial
15
Case Reports
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EC 3.6.1.-
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GTP Phosphohydrolases
11
OPA1 protein, human
9
Letter
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8
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6
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8L70Q75FXE
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Adenosine Triphosphate
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Cell free circulating-mtDNA
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Creatine
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Dominant optic atrophy
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EC 7.1.1.2
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FGF21
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