Works by Ebrahimi‐Fakhari, Darius

Results: 67

Movement Disorders in Treatable Inborn Errors of Metabolism.

Published in:

2019

By:

Ebrahimi‐Fakhari, Darius;
Van Karnebeek, Clara;
Münchau, Alexander;
Ebrahimi-Fakhari, Darius

Publication type:

journal article

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

Published in:

2016

By:

Marras, Connie;
Lang, Anthony;
van de Warrenburg, Bart P.;
Sue, Carolyn M.;
Tabrizi, Sarah J.;
Bertram, Lars;
Mercimek‐Mahmutoglu, Saadet;
Ebrahimi‐Fakhari, Darius;
Warner, Thomas T.;
Durr, Alexandra;
Assmann, Birgit;
Lohmann, Katja;
Kostic, Vladimir;
Klein, Christine;
Mercimek-Mahmutoglu, Saadet;
Ebrahimi-Fakhari, Darius

Publication type:

journal article

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

International electives in the final year of German medical school education -- a student's perspective.

Published in:

GMS Zeitschrift für Medizinische Ausbildung, 2014, v. 31, n. 3, p. 1, doi. 10.3205/zma000918

By:

Ebrahimi-Fakhari, Darius;
Agrawal, Mridul;
Wahlster, Lara

Publication type:

Article

Case Report of Friedreich's Ataxia and ALG1‐Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63890

By:

Quinlan, Aisling;
Rodan, Lance;
Barkoudah, Elizabeth;
Tam, Amy;
Saffari, Afshin;
Shammas, Ibrahim;
Ranatunga, Wasantha;
Morava‐Kozicz, Eva;
Oglesbee, Devin;
Berry, Gerald;
Ebrahimi‐Fakhari, Darius;
Srivastava, Siddharth

Publication type:

Article

Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3531, doi. 10.1002/ajmg.a.62953

By:

Gable, Dustin L.;
Mo, Alisa;
Estrella, Elicia;
Saffari, Afshin;
Ghosh, Partha S.;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2590, doi. 10.1002/ajmg.a.62880

By:

Alecu, Julian Emanuel;
Ohmi, Yuhsuke;
Bhuiyan, Robiul H.;
Inamori, Kei‐ichiro;
Nitta, Takahiro;
Saffari, Afshin;
Jumo, Hellen;
Ziegler, Marvin;
de Gusmao, Claudio Melo;
Sharma, Nutan;
Ohno, Shiho;
Manabe, Noriyoshi;
Yamaguchi, Yoshiki;
Kambe, Mariko;
Furukawa, Keiko;
Sahin, Mustafa;
Inokuchi, Jin‐ichi;
Furakawa, Koichi;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 30, p. 10762, doi. 10.1523/JNEUROSCI.4796-14.2015

By:

Duyu Nie;
Zehua Chen;
Ebrahimi-Fakhari, Darius;
Di Nardo, Alessia;
Julich, Kristina;
Robson, Victoria K.;
Yung-Chih Cheng;
Woolf, Clifford J.;
Heiman, Myriam;
Sahin, Mustafa

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

Deep brain stimulation for medically refractory status dystonicus in UBA5‐related disorder.

Published in:

Movement Disorders, 2023, v. 38, n. 9, p. 1757, doi. 10.1002/mds.29428

By:

Zaman, Zainab;
Straka, Nadine;
Pinto, Anna L.;
Srouji, Rasha;
Tam, Amy;
Periasamy, Uvaraj;
Stone, Scellig;
Kleinman, Monica;
Northam, Weston T.;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Reply to: Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Published in:

Movement Disorders, 2023, v. 38, n. 5, p. 911, doi. 10.1002/mds.29384

By:

Saffari, Afshin;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Published in:

Movement Disorders, 2022, v. 37, n. 12, p. 2440, doi. 10.1002/mds.29225

By:

Mo, Alisa;
Saffari, Afshin;
Kellner, Melanie;
Döbler‐Neumann, Marion;
Jordan, Catherine;
Srivastava, Siddharth;
Zhang, Bo;
Sahin, Mustafa;
Fink, John K.;
Smith, Linsley;
Posey, Jennifer E.;
Alter, Katharine E.;
Toro, Camilo;
Blackstone, Craig;
Soldatos, Ariane G.;
Christie, Michelle;
Schüle, Rebecca;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update.

Published in:

Movement Disorders, 2022, v. 37, n. 5, p. 905, doi. 10.1002/mds.28982

By:

Lange, Lara M.;
Gonzalez‐Latapi, Paulina;
Rajalingam, Rajasumi;
Tijssen, Marina A.J.;
Ebrahimi‐Fakhari, Darius;
Gabbert, Carolin;
Ganos, Christos;
Ghosh, Rhia;
Kumar, Kishore R.;
Lang, Anthony E.;
Rossi, Malco;
van der Veen, Sterre;
van de Warrenburg, Bart;
Warner, Tom;
Lohmann, Katja;
Klein, Christine;
Marras, Connie

Publication type:

Article

A special issue on childhood‐onset movement disorders.

Published in:

Movement Disorders, 2019, v. 34, n. 5, p. 595, doi. 10.1002/mds.27663

By:

Ebrahimi‐Fakhari, Darius;
Münchau, Alexander;
Stamelou, Maria

Publication type:

Article

A special issue on childhood-onset movement disorders.

Published in:

2019

By:

Ebrahimi-Fakhari, Darius;
Münchau, Alexander;
Stamelou, Maria

Publication type:

Editorial

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.

Published in:

2017

By:

Marras, Connie;
Lang, Anthony;
van de Warrenburg, Bart P.;
Sue, Carolyn M.;
Tabrizi, Sarah J.;
Bertram, Lars;
Mercimek-Mahmutoglu, Saadet;
Ebrahimi-Fakhari, Darius;
Warner, Thomas T.;
Durr, Alexandra;
Assmann, Birgit;
Lohmann, Katja;
Kostic, Vladimir;
Klein, Christine

Publication type:

Interview

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

Published in:

2016

By:

Klein, Christine;
Lang, Anthony;
van de Warrenburg, Bart P.;
Sue, Carolyn M.;
Tabrizi, Sarah J.;
Bertram, Lars;
Mercimek ‐ Mahmutoglu, Saadet;
Ebrahimi ‐ Fakhari, Darius;
Warner, Thomas T.;
Durr, Alexandra;
Assmann, Birgit;
Kostic, Vladimir;
Lohmann, Katja;
Marras, Connie

Publication type:

Letter

Parkinson's disease: A disorder of axonal mitophagy?

Published in:

2014

By:

Ebrahimi‐Fakhari, Darius;
Wahlster, Lara;
Sahin, Mustafa

Publication type:

Editorial

Modeling Parkinson's disease in a dish - A story of yeast and men.

Published in:

Movement Disorders, 2014, v. 29, n. 1, p. 34, doi. 10.1002/mds.25781

By:

Ebrahimi‐Fakhari, Darius;
Wahlster, Lara

Publication type:

Article

Restoring impaired protein metabolism in Parkinson's disease - TFEB-mediated autophagy as a novel therapeutic target.

Published in:

Movement Disorders, 2013, v. 28, n. 10, p. 1346, doi. 10.1002/mds.25601

By:

Ebrahimi‐Fakhari, Darius;
Wahlster, Lara

Publication type:

Article

Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link.

Published in:

Movement Disorders, 2013, v. 28, n. 8, p. 1050, doi. 10.1002/mds.25563

By:

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

Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder.

Published in:

Clinical Genetics, 2023, v. 103, n. 5, p. 566, doi. 10.1111/cge.14275

By:

Alvarez, Carolina;
Grimmel, Mona;
Ebrahimi‐Fakhari, Darius;
Paul, Victoria G.;
Deininger, Natalie;
Riess, Angelika;
Haack, Tobias;
Gardella, Elena;
Møller, Rikke S.;
Bayat, Allan

Publication type:

Article

ap4b1<sup>−/−</sup> zebrafish demonstrate morphological and motor abnormalities.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 12, p. 1034, doi. 10.1093/hmg/ddaf056

By:

Rosengarten, Helena;
D'Amore, Angelica;
Kim, Hyo-Min;
Ebrahimi-Fakhari, Darius

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

Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1403815

By:

Domínguez Carral, Jana;
Reinhard, Carola;
Ebrahimi-Fakhari, Darius;
Dorison, Nathalie;
Galosi, Serena;
Garone, Giacomo;
Malenica, Masa;
Ravelli, Claudia;
Serdaroglu, Esra;
van de Pol, Laura A.;
Koy, Anne;
Leuzzi, Vincenzo;
Roubertie, Agathe;
Lin, Jean-Pierre;
Doummar, Diane;
Cif, Laura;
Ortigoza-Escobar, Juan Darío

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

Distinct Roles In Vivo for the Ubiquitin-Proteasome System and the Autophagy-Lysosomal Pathway in the Degradation of α-Synuclein.

Published in:

Journal of Neuroscience, 2011, v. 31, n. 41, p. 14508, doi. 10.1523/JNEUROSCI.1560-11.2011

By:

Ebrahimi-Fakhari, Darius;
Cantuti-Castelvetri, Ippolita;
Fan, Zhanyun;
Rockenstein, Edward;
Masliah, Eliezer;
Hyman, Bradley T.;
McLean, Pamela J.;
Unni, Vivek K.

Publication type:

Article

Molecular Chaperones and Co-Chaperones in Parkinson Disease.

Published in:

Neuroscientist, 2012, v. 18, n. 6, p. 589, doi. 10.1177/1073858412441372

By:

Dimant, Hemi;
Ebrahimi-Fakhari, Darius;
McLean, Pamela J.

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

An update on autophagy disorders.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12798

By:

Dafsari, Hormos Salimi;
Martinelli, Diego;
Saffari, Afshin;
Ebrahimi‐Fakhari, Darius;
Fanto, Manolis;
Dionisi‐Vici, Carlo;
Jungbluth, Heinz

Publication type:

Article

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 51, doi. 10.1002/jimd.12084

By:

Teinert, Julian;
Behne, Robert;
Wimmer, Miriam;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 631, doi. 10.1007/s10545-017-0048-0

By:

Saffari, Afshin;
Kölker, Stefan;
Hoffmann, Georg;
Ebrahimi-Fakhari, Darius

Publication type:

Article

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6

By:

Huemer, Martina;
Karall, Daniela;
Schossig, Anna;
Abdenur, Jose;
Jasmi, Fatma;
Biagosch, Caroline;
Distelmaier, Felix;
Freisinger, Peter;
Graham, Brett;
Haack, Tobias;
Hauser, Natalie;
Hertecant, Jozef;
Ebrahimi-Fakhari, Darius;
Konstantopoulou, Vassiliki;
Leydiker, Karen;
Lourenco, Charles;
Scholl-Bürgi, Sabine;
Wilichowski, Ekkehard;
Wolf, Nicole;
Wortmann, Saskia

Publication type:

Article

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-26347-y

By:

Gonçalves, Inês do Carmo G.;
Brecht, Johanna;
Thelen, Maximilian P.;
Rehorst, Wiebke A.;
Peters, Miriam;
Lee, Hyun Ju;
Motameny, Susanne;
Torres-Benito, Laura;
Ebrahimi-Fakhari, Darius;
Kononenko, Natalia L.;
Altmüller, Janine;
Vilchez, David;
Sahin, Mustafa;
Wirth, Brunhilde;
Kye, Min Jeong

Publication type:

Article

Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice.

Published in:

Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.822129

By:

Yang, Xiaofan;
Yin, Hongqiang;
Wang, Xiaojing;
Sun, Yueqing;
Bian, Xianli;
Zhang, Gaorui;
Li, Anning;
Cao, Aihua;
Li, Baomin;
Ebrahimi-Fakhari, Darius;
Yang, Zhuo;
Meisler, Miriam H.;
Liu, Qiji

Publication type:

Article

Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons.

Published in:

Autophagy, 2017, v. 13, n. 4, p. 754, doi. 10.1080/15548627.2016.1277310

By:

Ebrahimi-Fakhari, Darius;
Saffari, Afshin;
Wahlster, Lara;
Sahin, Mustafa

Publication type:

Article

Alpha-synuclein aggregation involves a bafilomycin A<sub>1</sub>-sensitive autophagy pathway.

Published in:

Autophagy, 2012, v. 8, n. 5, p. 754, doi. 10.4161/auto.19371

By:

Klucken, Jochen;
Poehler, Anne-Maria;
Ebrahimi-Fakhari, Darius;
Schneider, Jacqueline;
Nuber, Silke;
Rockenstein, Edward;
Schlötzer-Schrehardt, Ursula;
Hyman, Bradley T.;
McLean, Pamela J.;
Masliah, Eliezer;
Winkler, Juergen

Publication type:

Article

Alpha-synuclein's degradation in vivo.

Published in:

Autophagy, 2012, v. 8, n. 2, p. 281, doi. 10.4161/auto.8.2.18938

By:

Ebrahimi-Fakhari, Darius;
McLean, Pamela J.;
Unni, Vivek K.

Publication type:

Article

Protein degradation pathways in Parkinson's disease: curse or blessing.

Published in:

Acta Neuropathologica, 2012, v. 124, n. 2, p. 153, doi. 10.1007/s00401-012-1004-6

By:

Ebrahimi-Fakhari, Darius;
Wahlster, Lara;
McLean, Pamela

Publication type:

Article

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Published in:

NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00441-9

By:

French, Courtney E.;
Andrews, Nancy C.;
Beggs, Alan H.;
Boone, Philip M.;
Brownstein, Catherine A.;
Chopra, Maya;
Chou, Janet;
Chung, Wendy K.;
D'Gama, Alissa M.;
Doan, Ryan N.;
Ebrahimi-Fakhari, Darius;
Goldstein, Richard D.;
Irons, Mira;
Jacobsen, Christina;
Kenna, Margaret;
Lee, Ted;
Madden, Jill A.;
Majmundar, Amar J.;
Mann, Nina;
Morton, Sarah U.

Publication type:

Article

STUB1‐Associated Autosomal‐Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon–Holmes Syndrome Caused by Maternal Uniparental Isodisomy.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 4, p. 533, doi. 10.1002/mdc3.14322

By:

Agianda, Habibah A.P.;
Tam, Amy;
Kunta, Avaneesh;
Zubair, Umar;
Saffari, Afshin;
Rong, Joshua;
Crough, Michelle;
Srouji, Rasha;
Quiroz, Vicente;
Yang, Kathryn;
Schierbaum, Luca;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series.

Published in:

Movement Disorders Clinical Practice, 2024, v. 11, n. 12, p. 1613, doi. 10.1002/mdc3.14245

By:

Yang, Kathryn;
Lindsay, Rebecca;
Quiroz, Vicente;
Srouji, Rasha;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Biallelic Variants in COQ4 Cause Childhood‐Onset Pure Hereditary Spastic Paraplegia.

Published in:

Movement Disorders Clinical Practice, 2024, v. 11, n. 12, p. 1620, doi. 10.1002/mdc3.14226

By:

Schierbaum, Luca;
Quiroz, Vicente;
Tam, Amy;
Zubair, Umar;
Tochen, Laura;
Srouji, Rasha;
Yang, Kathryn;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Published in:

Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1072, doi. 10.1002/mdc3.14157

By:

Novelli, Maria;
Tolve, Manuela;
Quiroz, Vicente;
Carducci, Claudia;
Bove, Rossella;
Ricciardi, Giacomina;
Yang, Kathryn;
Manti, Filippo;
Pisani, Francesco;
Ebrahimi‐Fakhari, Darius;
Galosi, Serena;
Leuzzi, Vincenzo

Publication type:

Article

Transitional Care for Young People with Movement Disorders: Consensus‐Based Recommendations from the MDS Task Force on Pediatrics.

Published in:

Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 748, doi. 10.1002/mdc3.13728

By:

Pringsheim, Tamara;
Batla, Amit;
Shalash, Ali;
Sahu, Jitendra Kumar;
Cosentino, Carlos;
Ebrahimi‐Fakhari, Darius;
Friedman, Jennifer;
Lin, Jean‐Pierre;
Mink, Jonathan;
Munchau, Alexander;
Munoz, Daniela;
Nardocci, Nardo;
Perez‐Dueñas, Belen;
Sardar, Zomer;
Triki, Chahnez;
Ben‐Pazi, Hilla;
Silveira‐Moriyama, Laura;
Troncoso‐Schifferli, Monica;
Hoshino, Kyoko;
Dale, Russell C.

Publication type:

Article

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases.

Published in:

Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 149, doi. 10.1002/mdc3.12573

By:

Davis, Peter E.;
Anselm, Irina;
Ebrahimi‐Fakhari, Darius;
Hildebrandt, Clara;
Rodan, Lance H.;
Bodamer, Olaf

Publication type:

Article

Clinical and genetic characterization of <italic>AP4B1</italic>‐associated SPG47.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 311, doi. 10.1002/ajmg.a.38561

By:

Ebrahimi‐Fakhari, Darius;
Cheng, Chi;
Dies, Kira;
Diplock, Amelia;
Pier, Danielle B.;
Ryan, Conor S.;
Lanpher, Brendan C.;
Hirst, Jennifer;
Chung, Wendy K.;
Sahin, Mustafa;
Rosser, Elisabeth;
Darras, Basil;
Bennett, James T.;
on behalf of CureSPG47

Publication type:

Article

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

Published in:

2020

By:

Ebrahimi-Fakhari, Darius;
Teinert, Julian;
Behne, Robert;
Wimmer, Miriam;
D'Amore, Angelica;
Eberhardt, Kathrin;
Brechmann, Barbara;
Ziegler, Marvin;
Jensen, Dana M;
Nagabhyrava, Premsai;
Geisel, Gregory;
Carmody, Erin;
Shamshad, Uzma;
Dies, Kira A.;
Yuskaitis, Christopher J;
Salussolia, Catherine L;
Ebrahimi-Fakhari, Daniel;
Pearson, Toni S;
Saffari, Afshin;
Ziegler, Andreas

Publication type:

journal article

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Published in:

2016

By:

Ebrahimi-Fakhari, Darius;
Saffari, Afshin;
Wahlster, Lara;
Lu, Jenny;
Byrne, Susan;
Hoffmann, Georg F.;
Jungbluth, Heinz;
Sahin, Mustafa

Publication type:

journal article