Riccardo Berutti
Overview
Explore the profile of Riccardo Berutti including associated specialties, affiliations and a list of published articles.
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Articles
60
Citations
1431
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Recent Articles
1.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, et al.
Brain
. 2025 Feb;
PMID: 39937650
Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not...
2.
Roos A, Hausler M, Kollipara L, Topf A, Preusse C, Stucka R, et al.
J Neuromuscul Dis
. 2024 Aug;
11(5):1131-1137.
PMID: 39121134
HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized...
3.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
4.
Jacob M, Brugger M, Andres S, Wagner M, Graf E, Berutti R, et al.
Neuropediatrics
. 2024 Mar;
55(4):260-264.
PMID: 38547905
In patients with neurodevelopmental disorders (NDDs), exome sequencing (ES), the diagnostic gold standard, reveals an underlying monogenic condition in only approximately 40% of cases. We report the case of a...
5.
Riedhammer K, Simmendinger H, Tasic V, Putnik J, Abazi-Emini N, Stajic N, et al.
Clin Genet
. 2024 Jan;
105(4):406-414.
PMID: 38214412
Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end-stage kidney disease (ESKD). Monoallelic disease-causing variants in COL4A3/COL4A4 have been associated with autosomal dominant...
6.
Krenn M, Wagner M, Zulehner G, Weng R, Jager F, Keritam O, et al.
J Neurol
. 2023 Dec;
271(4):1937-1946.
PMID: 38127101
Background: Neuromuscular disorders (NMDs) are heterogeneous conditions with a considerable fraction attributed to monogenic defects. Despite the advancements in genomic medicine, many patients remain without a diagnosis. Here, we investigate...
7.
Lenz D, Schlieben L, Shimura M, Bianzano A, Smirnov D, Kopajtich R, et al.
Hepatology
. 2023 Nov;
79(5):1075-1087.
PMID: 37976411
Background And Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to...
8.
Silvaieh S, Konig T, Wurm R, Parvizi T, Berger-Sieczkowski E, Goeschl S, et al.
Hum Genomics
. 2023 Aug;
17(1):79.
PMID: 37635234
No abstract available.
9.
Harrer P, Skorvanek M, Kittke V, Dzinovic I, Borngraber F, Thomsen M, et al.
Mov Disord
. 2023 Jul;
38(10):1914-1924.
PMID: 37485550
Background: Protein synthesis is a tightly controlled process, involving a host of translation-initiation factors and microRNA-associated repressors. Variants in the translational regulator EIF2AK2 were first linked to neurodevelopmental-delay phenotypes, followed...
10.
Dzinovic I, Graf E, Brugger M, Berutti R, Prihodova I, Blaschek A, et al.
Mov Disord Clin Pract
. 2023 Jul;
10(7):1159-1161.
PMID: 37476319
No abstract available.