Inger Nennesmo
Overview
Explore the profile of Inger Nennesmo including associated specialties, affiliations and a list of published articles.
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83
Citations
1576
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Recent Articles
1.
Chen Z, Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, et al.
Mov Disord
. 2024 Dec;
40(2):363-369.
PMID: 39635987
Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to...
2.
Paucar M, Nilsson D, Engvall M, Laffita-Mesa J, Soderhall C, Skorpil M, et al.
J Intern Med
. 2024 Jul;
296(3):234-248.
PMID: 38973251
Background: Spinocerebellar ataxia 4 (SCA4), characterized in 1996, features adult-onset ataxia, polyneuropathy, and linkage to chromosome 16q22.1; its underlying mutation has remained elusive. Objective: To explore the radiological and neuropathological...
3.
Filograna R, Gerlach J, Choi H, Rigoni G, Barbaro M, Oscarson M, et al.
NPJ Parkinsons Dis
. 2024 Apr;
10(1):93.
PMID: 38684669
Loss-of-function variants in the PRKN gene encoding the ubiquitin E3 ligase PARKIN cause autosomal recessive early-onset Parkinson's disease (PD). Extensive in vitro and in vivo studies have reported that PARKIN...
4.
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in
Ben-Shabat I, Kvarnung M, Sperker W, Bruhn H, Wredenberg A, Wibom R, et al.
Neurol Genet
. 2023 Nov;
9(6):e200100.
PMID: 38035175
Objectives: Biallelic variants in are associated with a rare mitochondrial syndrome characterized by nephronophthisis leading to kidney failure, essential tremor, hearing loss, seizures, and intellectual disability. Only 2 publications on...
5.
Argyriou A, Horuluoglu B, Galindo-Feria A, Diaz-Boada J, Sijbranda M, Notarnicola A, et al.
EMBO Mol Med
. 2023 Jul;
15(10):e17240.
PMID: 37522383
Idiopathic inflammatory myopathies (IIM) are rare autoimmune systemic diseases characterized by muscle weakness and the presence of muscle-infiltrating T cells. IIM represent a clinical challenge due to heterogeneity of symptoms...
6.
Paucar M, Laffita-Mesa J, Niemela V, Malmgren H, Nennesmo I, Lagerstedt-Robinson K, et al.
J Neurol Sci
. 2023 Jun;
451:120707.
PMID: 37379724
Objective: To perform a screening for Huntington disease (HD) phenocopies in a Swedish cohort. Methods: Seventy-three DNA samples negative for HD were assessed at a tertiary center in Stockholm. The...
7.
Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, et al.
Front Neurol
. 2023 Jun;
14:1170005.
PMID: 37273706
Introduction: Neuromuscular disorders (NMDs) have a heterogeneous etiology. A genetic diagnosis is key to personalized healthcare and access to targeted treatment for the affected individuals. Methods: In this study, 861...
8.
Valentino R, Scotton W, Roemer S, Lashley T, Heckman M, Shoai M, et al.
medRxiv
. 2023 May;
PMID: 37163045
Background: Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies...
9.
Cselenyi Z, Wallin J, Tjerkaski J, Bloth B, Svensson S, Nennesmo I, et al.
Synapse
. 2023 Mar;
77(4):e22269.
PMID: 36951466
Corticobasal syndrome (CBS) is associated with 4-repeat tauopathy and/or Alzheimer's disease pathologies. To examine tau and amyloid-β (Aβ) deposits in CBS patients using positron emission tomography (PET). Eight CBS patients...
10.
Tjader I, Klaude M, Ait Hssain A, Guillet C, Nennesmo I, Wernerman J, et al.
Nutrients
. 2022 Sep;
14(18).
PMID: 36145109
(1) Background: Muscle protein synthesis in critically ill patients is, on average, normal despite dramatic muscle loss, but the variation is much larger than in controls. Here, we evaluate if...