Pathology and Genetics in a Global Cohort of Parkinsonian Disorders
Lesley Y. Wu, Tessa du Toit, Tatiana Georgiades, Eleanor J. Stafford et autres
3 citationsJAMA Neurology
Christian Beetz
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
225Publications signalées
5560Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Hereditary Neurological DisordersLysosomal Storage Disorders ResearchNeurological diseases and metabolismGenomics and Rare DiseasesCellular transport and secretion
Publications récentes
The GBA1 p. E427K (p. E388K ) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu et autres
0 citationsMovement Disorders
Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease
Tama Dinur, Peter Bauer, Sabine Schroeder, Guido Kramp et autres
0 citationsInternational Journal of Molecular Sciences
The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis
Leah V. Chifamba, Sitki Cem Parlar, Emma N Somerville, Lang Liu et autres
0 citationsmedRxiv
P219: Updating the spectrum of TPP1 mutations suspected of causing CLN2 (Batten disease) to enable earlier genetic testing and inform prevalence
Sara Pulit, Emanuela Izzo, Sherif Khattab, Robert Power et autres
0 citationsGenetics in Medicine Open
P245: Updating the spectrum of GALNS mutations suspected of causing Morquio A (MPS IVA) to estimate genetic prevalence and improve diagnosis
Sara Pulit, Emanuela Izzo, Sherif Khattab, Robert Power et autres
0 citationsGenetics in Medicine Open
P319: Updating the spectrum of ARSB mutations suspected of causing Maroteaux-Lamy (MPS VI) to enable genetic prevalence estimation and improve diagnosis
Sara Pulit, Emanuela Izzo, Sherif Khattab, Robert Power et autres
0 citationsGenetics in Medicine Open
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients
Christian A. Ganoza, Ana Westenberger, Jefri J Paul, Filipa Curado et autres
0 citationsMovement Disorders
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy
Andrea Bock, Mona K. Schurig, Miles Willoughby, Andrea Mirecki et autres
1 citationAdvanced Science
Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic
Marie Materna, Christian Beetz, Christian A. Ganoza, Caroline Deswarte et autres
1 citationJournal of Human Immunity
RAB32 ‐Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria
Teresa Kleinz, Francesco Cavallieri, Max Borsche, Giulia Toschi et autres
5 citationsMovement Disorders
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson’s disease
Claire Y Chiang, Neringa Pratuseviciute, Yu‐En Lin, Ayan Adhikari et autres
5 citationsCell Reports
BNTIC News n’est pas le producteur de ces données. Métadonnées interrogées à la demande auprès de OpenAlex (CC0). Sources et limites.