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Sara Nagy

Explore the profile of Sara Nagy including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 20
Citations 262
Followers 0
Related Specialties
Neurology
General Medicine
Psychiatry
Top 10 Co-Authors
Henry Houlden
Simone Schmidt
Dirk Fischer
Patricia Hafner
Mary M Reilly
Daniela Rubino-Nacht
Bettina C Henzi
Niveditha Putananickal
Riccardo Curro
Sabine Schaedelin
Published In
Brain Commun
Neurology
Epilepsia
J Vis Exp
Neurol Neuroimmunol Neuroinflamm
Affiliations
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Recent Articles
1.
Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial (TAMDMD Group B)
Henzi B, Putananickal N, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, et al.
Neuromuscul Disord . 2025 Jan; 47:105275. PMID: 39879732
Most patients with Duchenne muscular dystrophy (DMD) are non-ambulant. Preserving proximal motor function is crucial, rarely studied. Tamoxifen, a selective oestrogen receptor modulator, reduced signs of muscular pathology in a...
2.
Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations
Nagy S, Pagnamenta A, Cali E, Braakman H, Wijntjes J, Kusters B, et al.
Brain Commun . 2024 Nov; 6(6):fcae377. PMID: 39502942
A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand...
3.
Pathologic repeat expansions do not contribute to the development of inflammatory neuropathies
Nagy S, Carr A, Mroczek M, Rinaldi S, Curro R, Dominik N, et al.
Brain Commun . 2024 Jul; 6(4):fcae163. PMID: 38978724
Biallelic expansions of the AAGGG repeat in the replication factor C subunit 1 () have recently been described to be responsible for cerebellar ataxia, peripheral neuropathy and vestibular areflexia syndrome....
4.
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
Maroofian R, Sarraf P, OBrien T, Kamel M, Cakar A, Elkhateeb N, et al.
Brain . 2024 Mar; 147(7):2334-2343. PMID: 38527963
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity...
5.
Analysis of repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS)
Kekenadze M, Rocca C, Turchetti V, Nagy S, Kvirkvelia N, Vashadze S, et al.
F1000Res . 2024 Mar; 12:1113. PMID: 38464738
Background: Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disorder that affects the upper and lower motor neurons. Several genetic risk factors have been identified in the past decade...
6.
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Henzi B, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, et al.
Lancet Neurol . 2023 Sep; 22(10):890-899. PMID: 37739572
Background: Drug repurposing could provide novel treatment options for Duchenne muscular dystrophy. Because tamoxifen-an oestrogen receptor regulator-reduced signs of muscular pathology in a Duchenne muscular dystrophy mouse model, we aimed...
7.
Intronic GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
Pellerin D, Wilke C, Traschutz A, Nagy S, Curro R, Dicaire M, et al.
J Neurol Neurosurg Psychiatry . 2023 Jul; 95(2):175-179. PMID: 37399286
Background: Intronic GAA repeat expansions in the fibroblast growth factor 14 gene () have recently been identified as a common cause of ataxia with potential phenotypic overlap with -related cerebellar...
8.
Metabolic markers of short and long-term exogenous DL-beta-hydroxybutyrate supplementation in episodic migraine patients: an exploratory analysis of a randomized-controlled-trial
Putananickal N, Gross E, Orsini A, Schmidt S, Hafner P, Gocheva V, et al.
Front Pharmacol . 2023 May; 14:1172483. PMID: 37214431
Emerging findings propose that the pathophysiology of migraine may be associated with dysfunctional metabolic mechanisms. Recent findings suggest that migraine attacks are a response to the cerebral energy deficit, and...
9.
Evaluation of frequency, severity, and independent risk factors for recurrence of disease activity after fingolimod discontinuation in a large real-world cohort of patients with multiple sclerosis
Cerda-Fuertes N, Nagy S, Schaedelin S, Sinnecker T, Ruberte E, Papadopoulou A, et al.
Ther Adv Neurol Disord . 2023 Feb; 16:17562864221150312. PMID: 36762317
Background: Clinical and radiological signs of recurring disease activity (RDA) have been described in patients with multiple sclerosis (pwMS) after discontinuation of fingolimod (FGL). Objective: To describe frequency, severity and...
10.
Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Pellerin D, Danzi M, Wilke C, Renaud M, Fazal S, Dicaire M, et al.
N Engl J Med . 2022 Dec; 388(2):128-141. PMID: 36516086
Background: The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis. Methods: We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian...