Marvin Ziegler

发表

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

S. Prabhu, M. Sahin, E. Yang, 2021, Neurology.

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

C. Brownstein, M. Sahin, M. Gorman, 2022, Annals of clinical and translational neurology.

AP-4 mediates vesicular transport of the 2-AG endocannabinoid producing enzyme DAGLB

Wardiya Afshar Saber, Georg H. H. Borner, W. A. Saber, 2020, bioRxiv.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

N. Manabe, M. Sahin, K. Furukawa, 2022, American journal of medical genetics. Part A.

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7

M. Sahin, H. Kornblum, D. Ebrahimi-Fakhari, 2020, Neurology: Genetics.

AP-4-mediated axonal transport controls endocannabinoid production in neurons

M. Sahin, D. Ebrahimi-Fakhari, Catherine G. Vasilopoulou, 2022, Nature Communications.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

M. Sahin, M. Faghihi, S. Auvin, 2021, Neuropediatrics.

AP-4-mediated axonal transport controls endocannabinoid production in neurons

M. Sahin, Georg H. H. Borner, D. Ebrahimi-Fakhari, 2022, Nature communications.

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

J. Bonifacino, M. Sahin, S. Gray, 2023, The Journal of clinical investigation.

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia

P. Kivisäkk, M. Sahin, F. Santorelli, 2023, Movement disorders : official journal of the Movement Disorder Society.

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia

Wardiya Afshar Saber, M. Sahin, Dosh Whye, 2023, Research square.