Research Explorer

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Researcher

Nika Schuermans

10 Results

2023

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Nolwenn Jean-MarçaisEstrella López-MartínMaria Antonietta MencarelliSébastien MouttonRolph PfundtHana SafraouChristel Thauvin-RobinetJulien ThevenonFrédéric Tran Mau-ThemBert B.A. de Vries et al.

A1 Journal Article in GENETICS IN MEDICINE

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancLauren VersluysKE CopleyJD RubienC AltheimerMyra PeetermansElke Debackere et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

Nika SchuermansHannah VerdinJody GhijselsMadeleine HellemansElke DebackereElke BogaertSofie SymoensLeslie NaesensElien LecomteDavid Crosiers et al.

U Journal Article in Neurology Genetics

2022

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancL VersluysElke DebackereOlivier VanakkerSara JanssensJonathan BaetsK Verhoeven et al.

Expanding the TDP-43 proteinopathy pathway from neurons to muscle : physiological and pathophysiological functions

Lauren VersluysPedro Ervilha PereiraNika SchuermansBoel De PaepeJan De BleeckerElke BogaertBart Dermaut

A1 Journal Article in FRONTIERS IN NEUROSCIENCE

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika SchuermansSalima El ChehadehDimitri HemelsoetElke BogaertElke DebackerePascale HilbertNike Van DoninckMarie-Caroline TaquetToon RosseelGriet De Clercq et al.

Marked hypotonia : an additional feature of ANO3-related movement disorder

Patrick SantensArnout BruggemanNika SchuermansHannah VerdinBart Dermaut

Editorial material

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPatrick Verloo et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2015

Comparative study of innovative postoperative wound dressings after total knee arthroplasty

Andreas DobbelaereNika SchuermansSteven SmetCatherine Van Der StraetenJan Victor

A1 Journal Article in ACTA ORTHOPAEDICA BELGICA

Vernieuwende postoperatieve wondverbanden bij een totale knieprothese : vergelijkende studie van Aquacel Surgical, Opsite Visible en Mepilex Border

Andreas DobbelaereNika SchuermansSteven SmetJan Victor

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE