Works matching AU Alecu, Julian E.

Results: 12

HPDL Variant Type Correlates With Clinical Disease Onset and Severity.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1360, doi. 10.1002/acn3.70047

By:

Lee, Eun Hye;
Kim‐Mcmanus, Olivia;
Yang, Jennifer H.;
Haas, Richard;
Zaki, Maha S.;
Abdel‐Salam, Ghada M. H.;
Nakamura, Yuji;
Abdel‐Hamind, Mohamed S.;
Ebrahimi‐Fakhari, Darius;
Alecu, Julian E.;
Brunetti‐Pierri, Nicola;
Srinivasan, Varunvenkat M.;
Gowda, Vykuntaraju K.;
Gross, Stephanie;
Alanay, Yasemin;
Najarzadeh Totbati, Paria;
Yadavilli, Manya;
Friedman, Liana;
Ojeda, Naomi Meave;
Gleeson, Joseph G.

Publication type:

Article

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

Published in:

Movement Disorders, 2023, v. 38, n. 9, p. 1742, doi. 10.1002/mds.29524

By:

Alecu, Julian E.;
Saffari, Afshin;
Ziegler, Marvin;
Jordan, Catherine;
Tam, Amy;
Kim, Soyoung;
Leung, Edward;
Szczaluba, Krzysztof;
Mierzewska, Hanna;
King, Staci D.;
Santorelli, Filippo M.;
Yoon, Grace;
Trombetta, Bianca;
Kivisäkk, Pia;
Zhang, Bo;
Sahin, Mustafa;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

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

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28609-w

By:

Davies, Alexandra K.;
Alecu, Julian E.;
Ziegler, Marvin;
Vasilopoulou, Catherine G.;
Merciai, Fabrizio;
Jumo, Hellen;
Afshar-Saber, Wardiya;
Sahin, Mustafa;
Ebrahimi-Fakhari, Darius;
Borner, Georg H. H.

Publication type:

Article

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype–phenotype correlations.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 1, p. 93, doi. 10.1093/hmg/ddac182

By:

Alecu, Julian E;
Saffari, Afshin;
Jordan, Catherine;
Srivastava, Siddharth;
Blackstone, Craig;
Ebrahimi-Fakhari, Darius

Publication type:

Article

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases.

Published in:

Autophagy, 2022, v. 18, n. 7, p. 1715, doi. 10.1080/15548627.2021.1990671

By:

Saffari, Afshin;
Schröter, Julian;
Garbade, Sven F.;
Alecu, Julian E.;
Ebrahimi-Fakhari, Darius;
Hoffmann, Georg F.;
Kölker, Stefan;
Ries, Markus;
Syrbe, Steffen

Publication type:

Article

NPT100-18A rescues mitochondrial oxidative stress and neuronal degeneration in human iPSC-based Parkinson's model.

Published in:

BMC Neuroscience, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12868-025-00926-y

By:

Alecu, Julian E.;
Sigutova, Veronika;
Brazdis, Razvan-Marius;
Lörentz, Sandra;
Bogiongko, Marios Evangelos;
Nursaitova, Anara;
Regensburger, Martin;
Roybon, Laurent;
Galler, Kerstin M.;
Wrasidlo, Wolfgang;
Winner, Beate;
Prots, Iryna

Publication type:

Article

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44264-1

By:

Saffari, Afshin;
Brechmann, Barbara;
Böger, Cedric;
Saber, Wardiya Afshar;
Jumo, Hellen;
Whye, Dosh;
Wood, Delaney;
Wahlster, Lara;
Alecu, Julian E.;
Ziegler, Marvin;
Scheffold, Marlene;
Winden, Kellen;
Hubbs, Jed;
Buttermore, Elizabeth D.;
Barrett, Lee;
Borner, Georg H. H.;
Davies, Alexandra K.;
Ebrahimi-Fakhari, Darius;
Sahin, Mustafa

Publication type:

Article

Heterozygous variants in AP4S1 are not associated with a neurological phenotype.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 4, p. 851, doi. 10.1002/acn3.52302

By:

Quiroz, Vicente;
Zubair, Umar;
Schierbaum, Luca;
Tam, Amy;
Battaglia, Nicole;
Rong, Joshua;
Agianda, Habibah A. P.;
Alecu, Julian E.;
Yang, Kathryn;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 3, p. 648, doi. 10.1002/acn3.52288

By:

Brooks, Alexandra K.;
Quiroz, Vicente;
Schierbaum, Luca;
Tam, Amy;
Alecu, Julian E.;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

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

Published in:

2022

By:

Alecu, Julian E.;
Saffari, Afshin;
Jumo, Hellen;
Ziegler, Marvin;
Strelko, Oleksandr;
Brownstein, Catherine A.;
Gonzalez‐Heydrich, Joseph;
Rodan, Lance H.;
Gorman, Mark P.;
Sahin, Mustafa;
Ebrahimi‐Fakhari, Darius

Publication type:

Case Study

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

Published in:

Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab221

By:

Ebrahimi-Fakhari, Darius;
Alecu, Julian E.;
Brechmann, Barbara;
Ziegler, Marvin;
Eberhardt, Kathrin;
Jumo, Hellen;
D'Amore, Angelica;
Habibzadeh, Parham;
Faghihi, Mohammad Ali;
De Bleecker, Jan L.;
Vuillaumier-Barrot, Sandrine;
Auvin, Stéphane;
Santorelli, Filippo M.;
Neuser, Sonja;
Popp, Bernt;
Yang, Edward;
Barrett, Lee;
Davies, Alexandra K.;
Saffari, Afshin;
Hirst, Jennifer

Publication type:

Article

Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson’s disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 7, p. 1180, doi. 10.1093/hmg/ddaa039

By:

Brazdis, Razvan-Marius;
Alecu, Julian E.;
Marsch, Daniel;
Dahms, Annika;
Simmnacher, Katrin;
Lörentz, Sandra;
Brendler, Anna;
Schneider, Yanni;
Marxreiter, Franz;
Roybon, Laurent;
Winner, Beate;
Wei Xiang;
Prots, Iryna

Publication type:

Article