A. Nascimento

Also affiliated with Centre for Biomedical Network Research on Rare Diseases

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 9 papers. Top paper: “International retrospective natural history study of LMNA-related congenital muscular dystrophy”.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

Brain Communications(2021)10.1093/braincomms/fcab075

N/A

0.538DataRank · unranked

35 citations

Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong +39 more

SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

Nature Communications(2024)10.1038/s41467-024-49746-4

N/A

0.312DataRank · unranked

7 citations

Madryn Lake, Gerd Van der Hoeven, Zander Claes, Javier del Pino García, Sarah Lemaire +12 more

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Acta Neuropathologica(2023)10.1007/s00401-023-02551-7

N/A

0DataRank · unranked

12 citations

Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, José C. Milisenda +29 more

Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

Frontiers in Neurology(2024)10.3389/fneur.2024.1419791

N/A

0DataRank · unranked

18 citations

John W. Day, Darryl C. De Vivo, Jena M. Krueger, Eugenio Mercuri, A. Nascimento +10 more

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

European Journal of Human Genetics(2024)10.1038/s41431-023-01526-2

N/A

0DataRank · unranked

10 citations

Natalia Juliá‐Palacios, Roser Urreizti, Ana Sánchez‐Cuesta, Daniel J.M. Fernández‐Ayala, Elena García-Díaz +21 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Acta Neuropathologica(2020)10.1007/s00401-020-02223-w

N/A

0DataRank · unranked

46 citations

Edgard Verdura, Natalia Juliá‐Palacios, Eric N. Anderson, Leire Goicoechea, Laura Planas‐Serra +33 more

Effects of HMG CoA reductase ( HMGCR ) deficiency on skeletal muscle development

FEBS Journal(2025)10.1111/febs.17406

N/A

0DataRank · unranked

6 citations

Hannah R. Littel, Natalya M. Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla +16 more

International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

HAL (Le Centre pour la Communication Scientifique Directe)(2021)10.1093/braincomms/fcab075/6220465

N/A

0DataRank · unranked

0 citations

Pomi Yun, Adele D’Amico, Muntoni Francesco, C. Bönnemann, Ivana Dabaj +40 more