Research Explorer

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Project

Precision genomics in neurodegenerative brain disease: from patients to small model organisms and single cells

Outputs & Impact

Publications & research data ( 9 )

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

Astrid Van den broeckeAlexander DecruyenaereNika SchuermansHannah VerdinJody GhijselsAnne SiebenBart DermautDimitri Hemelsoet

A1 Journal Article in JOURNAL OF NEUROLOGY

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika SchuermansSalima El ChehadehDimitri HemelsoetJérémie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

A1 Journal Article in NATURE GENETICS

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.

A1 Journal Article in NEUROLOGY-GENETICS

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke BogaertAurore GardeThierry GautierKathleen RooneyYannis DuffourdPontus LeBlancEmma Van ReemptsFrederic Tran Mau-ThemIngrid M. WentzensenKit Sing Au et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism : possible implication for Alzheimer's disease

M DenechaudSarah GeursT ComptdaerS BégardA Garcia-NúñezLA PechereauT BouilletY VermeirenPP De DeynR Perbet et al.

A1 Journal Article in PROGRESS IN NEUROBIOLOGY

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

Moyamoya disease emerging as an immune-related angiopathy

Caroline AsselmanDimitri HemelsoetDenzel EggermontBart DermautFrancis Impens

A1 Journal Article in TRENDS IN MOLECULAR MEDICINE

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

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

Activities ( 0 )

Results

Impact narratives ( 1 )

Medicine: brain

Area(s): Health

Patents ( 0 )