Concepedia

Nami Altin

NA

Statistics

Publications

3

Citations

194

H-Index

3

Active since

2018

Affiliations

Inserm(Current)

Assistance Publique – Hôpitaux de Paris

Institut des Maladies Génétiques Imagine

Hôpital Necker-Enfants Malades

Université Paris Cité

Nami Altin is an author at Inserm specializing in life sciences, neurogenetic disorders, and neurogenetics.

ORCID

Publications per year

2018–2022

3

Publications

3

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau et al. · Brain · 2018 · 106 citations · Full text

, , +17

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson et al. · Nature Communications · 2020 · 63 citations · Full text

, , +14

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Marion Coolen, Nami Altin, Karthyayani Rajamani et al. · The American Journal of Human Genetics · 2022 · 25 citations · Full text

, , +16

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