Publications

Recent Publications (Since 2022)

Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nat Med. 2024 Jun 28. doi: 10.1038/s41591-024-03078-4. Epub ahead of print. PMID: 38942994.
Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD. Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. Front Neurol. 2024 Jun 6;15:1403815. doi: 10.3389/fneur.2024.1403815. PMID: 38903163; PMCID: PMC11188927.
Akula SK, Quiroz V, D’Gama AM, Chiu MY, Koh HY, Saffari A, Zaman Z, Tam A, Srouji R, Valentine R, Wiltrout K, Pinto A, Harini C, Pearl PL, Poduri A, Ebrahimi-Fakhari D. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. 2024 May 6. PMID: 38711225.
Afshar-Saber W, Chen C, Teaney NA, Kim K, Yang Z, Gasparoli FM, Ebrahimi-Fakhari D, Buttermore ED, Pin-Fang Chen I, Pearl PL, Sahin M. Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. Stem Cell Res. 2024 Apr 21;77:103424. doi: 10.1016/j.scr.2024.103424. Epub ahead of print. PMID: 38677032.
Vogt L, Quiroz V, Ebrahimi-Fakhari D. Emerging therapies for childhood-onset movement disorders. Curr Opin Pediatr. 2024 Jun 1;36(3):331-341. doi: 10.1097/MOP.0000000000001354. Epub 2024 Apr 4. PMID: 38655812.
Vogt LM, Yang K, Tse G, Quiroz V, Zaman Z, Wang L, Srouji R, Tam A, Estrella E, Manzi S, Fasano A, Northam WT, Stone S, Moharir M, Gonorazky H, McAlvin B, Kleinman M, LaRovere KL, Gorodetsky C, Ebrahimi-Fakhari D. Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. Mov Disord. 2024 Apr 15. doi: 10.1002/mds.29794. Epub ahead of print. PMID: 38619077.
Saffari A, Brechmann B, Böger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu JE, Ziegler M, Scheffold M, Winden K, Hubbs J, Buttermore ED, Barrett L, Borner GHH, Davies AK, Ebrahimi-Fakhari D*, Sahin M*. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Nat Commun. 2024 Jan 17;15(1):584. doi: 10.1038/s41467-023-44264-1. PMID: 38233389; PMCID: PMC10794252.
Afshar-Saber W, Teaney NA, Winden KD, Jumo H, Shi X, McGinty G, Hubbs J, Chen C, Tokatly Latzer I, Gasparoli F, Ebrahimi-Fakhari D, Buttermore ED, Roullet JB, Pearl PL, Sahin M. ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2023 Dec 16;190:106386. doi: 10.1016/j.nbd.2023.106386. Epub ahead of print. PMID: 38110041.
Zaman Z, Straka N, Pinto AL, Srouji R, Tam A, Periasamy U, Stone S, Kleinman M, Northam WT, Ebrahimi-Fakhari D. Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder. Mov Disord. 2023 Sep;38(9):1757-1759. doi: 10.1002/mds.29428. Epub 2023 May 2. PMID: 37130202; PMCID: PMC10525025.
Alecu JE, Saffari A, Ziegler M, Jordan C, Tam A, Kim S, Leung E, Szczaluba K, Mierzewska H, King SD, Santorelli FM, Yoon G, Trombetta B, Kivisäkk P, Zhang B, Sahin M, Ebrahimi-Fakhari D. Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Mov Disord. 2023 Sep;38(9):1742-1750. doi: 10.1002/mds.29524. Epub 2023 Jul 22. PMID: 37482941; PMCID: PMC10529494.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831; PMCID: PMC10393417.
Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O’Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 Jul;25(7):100839. doi: 10.1016/j.gim.2023.100839. Epub 2023 Apr 11. PMID: 37057675.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D’Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. PMID: 37471090; PMCID: PMC10359957.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648; PMCID: PMC10411936.
Alvarez C, Grimmel M, Ebrahimi-Fakhari D, Paul VG, Deininger N, Riess A, Haack T, Gardella E, Møller RS, Bayat A. Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Clin Genet. 2023 May;103(5):566-573. doi: 10.1111/cge.14275. Epub 2023 Jan 11. PMID: 36453471.
Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, Ebrahimi-Fakhari D, Gray SJ. Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. J Clin Invest. 2023 May 15;133(10):e164575. doi: 10.1172/JCI164575. PMID: 36951961; PMCID: PMC10178841.
Saffari A, Ebrahimi-Fakhari D. Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2023 May;38(5):911-913. doi: 10.1002/mds.29384. PMID: 37303094.
Pringsheim T, Batla A, Shalash A, Sahu JK, Cosentino C, Ebrahimi-Fakhari D, Friedman J, Lin JP, Mink J, Munchau A, Munoz D, Nardocci N, Perez-Dueñas B, Sardar Z, Triki C, Ben-Pazi H, Silveira-Moriyama L, Troncoso-Schifferli M, Hoshino K, Dale RC, Fung VSC, Kurian MA, Roze E. Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics. Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. PMID: 37205244; PMCID: PMC10186998.
Alecu JE, Saffari A, Jordan C, Srivastava S, Blackstone C, Ebrahimi-Fakhari D. De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Hum Mol Genet. 2023 Jan 1;32(1):93-103. doi: 10.1093/hmg/ddac182. Erratum in: Hum Mol Genet. 2023 Sep 5;32(18):2856. PMID: 35925862; PMCID: PMC9838092.
Gable DL, Mo A, Estrella E, Saffari A, Ghosh PS, Ebrahimi-Fakhari D. Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants. Am J Med Genet A. 2022 Dec;188(12):3531-3534. doi: 10.1002/ajmg.a.62953. Epub 2022 Aug 17. PMID: 35975723.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. PMID: 36103453; PMCID: PMC10062395.
Ebrahimi-Fakhari D, Saffari A, Pearl PL. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022 Dec;137(4):436-444. doi: 10.1016/j.ymgme.2021.06.006. Epub 2021 Jun 24. PMID: 34183250; PMCID: PMC8843241.
Kunta AR, Jueng J, Jordan C, Kojic J, Mo A, Ebrahimi-Fakhari D. Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy. Neurol Genet. 2022 Nov 23;8(6):e200041. doi: 10.1212/NXG.0000000000200041. PMID: 36524102; PMCID: PMC9747140.
Dafsari HS, Ebrahimi-Fakhari D, Saffari A, Deneubourg C, Fanto M, Jungbluth H. EPG5-Related Disorder. 2022 Oct 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 36228046.
Alecu JE, Ohmi Y, Bhuiyan RH, Inamori KI, Nitta T, Saffari A, Jumo H, Ziegler M, de Gusmao CM, Sharma N, Ohno S, Manabe N, Yamaguchi Y, Kambe M, Furukawa K, Sahin M, Inokuchi JI, Furakawa K, Ebrahimi-Fakhari D. Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. Am J Med Genet A. 2022 Sep;188(9):2590-2598. doi: 10.1002/ajmg.a.62880. Epub 2022 Jul 1. PMID: 35775650; PMCID: PMC9378512.
Heimer G, Neuser S, Ben-Zeev B, Ebrahimi-Fakhari D. TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability. 2022 Sep 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 36137062.
Saffari A, Schröter J, Garbade SF, Alecu JE, Ebrahimi-Fakhari D, Hoffmann GF, Kölker S, Ries M, Syrbe S. Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases. Autophagy. 2022 Jul;18(7):1715-1727. doi: 10.1080/15548627.2021.1990671. Epub 2021 Nov 24. PMID: 34818117; PMCID: PMC9298448.
Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update. Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28. PMID: 35481685.
Alecu JE, Saffari A, Jumo H, Ziegler M, Strelko O, Brownstein CA, Gonzalez-Heydrich J, Rodan LH, Gorman MP, Sahin M, Ebrahimi-Fakhari D. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Ann Clin Transl Neurol. 2022 Apr;9(4):570-576. doi: 10.1002/acn3.51531. Epub 2022 Mar 16. PMID: 35297214; PMCID: PMC8994985.
Yang X, Yin H, Wang X, Sun Y, Bian X, Zhang G, Li A, Cao A, Li B, Ebrahimi-Fakhari D, Yang Z, Meisler MH, Liu Q. Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice. Front Mol Neurosci. 2022 Apr 26;15:822129. doi: 10.3389/fnmol.2022.822129. PMID: 35557557; PMCID: PMC9087741.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O’Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24. PMID: 35076175; PMCID: PMC8862420.
Davies AK, Alecu JE, Ziegler M, Vasilopoulou CG, Merciai F, Jumo H, Afshar-Saber W, Sahin M, Ebrahimi-Fakhari D, Borner GHH. AP-4-mediated axonal transport controls endocannabinoid production in neurons. Nat Commun. 2022 Feb 25;13(1):1058. doi: 10.1038/s41467-022-28609-w. PMID: 35217685; PMCID: PMC8881493.

Publications Archive (Before 2022)

For an up-to-date list of publications from the Ebrahimi-Fakhari Lab refer to Pubmed

2021

Ebrahimi-Fakhari D, Alecu JE, Ziegler M, Geisel G, Jordan C, D’Amore A, Yeh RC, Akula SK, Saffari A, Prabhu SP, Sahin M, Yang E; International AP-4-HSP Registry and Natural History Study. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology. 2021 Nov 9;97(19):e1942-e1954. doi: 10.1212/WNL.0000000000012836. Epub 2021 Sep 20. PMID: 34544818; PMCID: PMC8601212.

Ebrahimi-Fakhari D, Alecu JE, Brechmann B, Ziegler M, Eberhardt K, Jumo H, D’Amore A, Habibzadeh P, Faghihi MA, De Bleecker JL, Vuillaumier-Barrot S, Auvin S, Santorelli FM, Neuser S, Popp B, Yang E, Barrett L, Davies AK, Saffari A, Hirst J, Sahin M. High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Brain Commun. 2021 Sep 25;3(4):fcab221. doi: 10.1093/braincomms/fcab221. PMID: 34729478; PMCID: PMC8557665.

Maroofian R, Gubas A, Kaiyrzhanov R, Scala M, Hundallah K, Severino M, Abdel-Hamid MS, Rosenfeld JA, Ebrahimi-Fakhari D, Ali Z, Rahim F, Houlden H, Tooze SA, Alsaleh NS, Zaki MS. Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Brain Commun. 2021 Sep 3;3(3):fcab183. doi: 10.1093/braincomms/fcab183. PMID: 34557665; PMCID: PMC8453401.

Savage MC, Kielian A, Elitt C, Peters JM, Ebrahimi-Fakhari D. Startle Epilepsy Triggered By Maternal Cough. Neuropediatrics. 2021 Aug;52(4):341-342. doi: 10.1055/s-0041-1731008. Epub 2021 Jun 30. PMID: 34192791.

Jordan C, Geisel G, Alecu JE, Zhang B, Sahin M, Ebrahimi-Fakhari D. Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Neurol Genet. 2021 Jul 20;7(4):e605. doi: 10.1212/NXG.0000000000000605. PMID: 34295967; PMCID: PMC8293284.

Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O’Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. PMID: 33847017.

Eberhardt K, Jumo H, D’Amore A, Alecu JE, Ziegler M, Afshar Saber W, Sahin M, Ebrahimi-Fakhari D. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). Stem Cell Res. 2021 May;53:102335. doi: 10.1016/j.scr.2021.102335. Epub 2021 Apr 16. PMID: 34087981; PMCID: PMC8824776.

Ebrahimi-Fakhari D, Alecu JE, Blackstone C. Spastic Paraplegia 15. 2021 May 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 34057829.

Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R, Avagliano L, Ávalos Y, Aveic S, Aveleira CA, Avin-Wittenberg T, Aydin Y, Ayton S, Ayyadevara S, Azzopardi M, Baba M, Backer JM, Backues SK, Bae DH, Bae ON, Bae SH, Baehrecke EH, Baek A, Baek SH, Baek SH, Bagetta G, Bagniewska-Zadworna A, Bai H, Bai J, Bai X, Bai Y, Bairagi N, Baksi S, Balbi T, Baldari CT, Balduini W, Ballabio A, Ballester M, Balazadeh S, Balzan R, Bandopadhyay R, Banerjee S, Banerjee S, Bánréti Á, Bao Y, Baptista MS, Baracca A, Barbati C, Bargiela A, Barilà D, Barlow PG, Barmada SJ, Barreiro E, Barreto GE, Bartek J, Bartel B, Bartolome A, Barve GR, Basagoudanavar SH, Bassham DC, Bast RC Jr, Basu A, Batoko H, Batten I, Baulieu EE, Baumgarner BL, Bayry J, Beale R, Beau I, Beaumatin F, Bechara LRG, Beck GR Jr, Beers MF, Begun J, Behrends C, Behrens GMN, Bei R, Bejarano E, Bel S, Behl C, Belaid A, Belgareh-Touzé N, Bellarosa C, Belleudi F, Belló Pérez M, Bello-Morales R, Beltran JSO, Beltran S, Benbrook DM, Bendorius M, Benitez BA, Benito-Cuesta I, Bensalem J, Berchtold MW, Berezowska S, Bergamaschi D, Bergami M, Bergmann A, Berliocchi L, Berlioz-Torrent C, Bernard A, Berthoux L, Besirli CG, Besteiro S, Betin VM, Beyaert R, Bezbradica JS, Bhaskar K, Bhatia-Kissova I, Bhattacharya R, Bhattacharya S, Bhattacharyya S, Bhuiyan MS, Bhutia SK, Bi L, Bi X, Biden TJ, Bijian K, Billes VA, Binart N, Bincoletto C, Birgisdottir AB, Bjorkoy G, Blanco G, Blas-Garcia A, Blasiak J, Blomgran R, Blomgren K, Blum JS, Boada-Romero E, Boban M, Boesze-Battaglia K, Boeuf P, Boland B, Bomont P, Bonaldo P, Bonam SR, Bonfili L, Bonifacino JS, Boone BA, Bootman MD, Bordi M, Borner C, Bornhauser BC, Borthakur G, Bosch J, Bose S, Botana LM, Botas J, Boulanger CM, Boulton ME, Bourdenx M, Bourgeois B, Bourke NM, Bousquet G, Boya P, Bozhkov PV, Bozi LHM, Bozkurt TO, Brackney DE, Brandts CH, Braun RJ, Braus GH, Bravo-Sagua R, Bravo-San Pedro JM, Brest P, Bringer MA, Briones-Herrera A, Broaddus VC, Brodersen P, Brodsky JL, Brody SL, Bronson PG, Bronstein JM, Brown CN, Brown RE, Brum PC, Brumell JH, Brunetti-Pierri N, Bruno D, Bryson-Richardson RJ, Bucci C, Buchrieser C, Bueno M, Buitrago-Molina LE, Buraschi S, Buch S, Buchan JR, Buckingham EM, Budak H, Budini M, Bultynck G, Burada F, Burgoyne JR, Burón MI, Bustos V, Büttner S, Butturini E, Byrd A, Cabas I, Cabrera-Benitez S, Cadwell K, Cai J, Cai L, Cai Q, Cairó M, Calbet JA, Caldwell GA, Caldwell KA, Call JA, Calvani R, Calvo AC, Calvo-Rubio Barrera M, Camara NO, Camonis JH, Camougrand N, Campanella M, Campbell EM, Campbell-Valois FX, Campello S, Campesi I, Campos JC, Camuzard O, Cancino J, Candido de Almeida D, Canesi L, Caniggia I, Canonico B, Cantí C, Cao B, Caraglia M, Caramés B, Carchman EH, Cardenal-Muñoz E, Cardenas C, Cardenas L, Cardoso SM, Carew JS, Carle GF, Carleton G, Carloni S, Carmona-Gutierrez 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CS, Li Z, Lin Y, Oshima S, Rong Y, Sluimer JC, Stallings CL, Tong CK. 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2020

Ziegler M, Russell BE, Eberhardt K, Geisel G, D’Amore A, Sahin M, Kornblum HI, Ebrahimi-Fakhari D. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2020 Dec 29;7(1):e544. doi: 10.1212/NXG.0000000000000544. PMID: 33553621; PMCID: PMC7862086.

Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D’Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Erratum in: Brain. 2021 Apr 12;144(3):e33. PMID: 32979048; PMCID: PMC7780481.

D’Amore A, Tessa A, Naef V, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo D, Mero S, Battini R, Bertocci G, Baldacci J, Sicca F, Gemignani F, Ricca I, Rubegni A, Hirst J, Marchese M, Sahin M, Ebrahimi-Fakhari D, Santorelli FM. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 Apr;7(4):584-589. doi: 10.1002/acn3.51018. Epub 2020 Mar 25. PMID: 32216065; PMCID: PMC7187712.

Srivastava S, D’Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 Apr;7(4):573-578. doi: 10.1002/acn3.51007. Epub 2020 Mar 8. PMID: 32147972; PMCID: PMC7187699.

Teinert J, Behne R, Wimmer M, Ebrahimi-Fakhari D. Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy. J Inherit Metab Dis. 2020 Jan;43(1):51-62. doi: 10.1002/jimd.12084. Epub 2019 Apr 8. PMID: 30854657.

Behne R, Teinert J, Wimmer M, D’Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310. PMID: 31915823; PMCID: PMC7001721.

2019

Teinert J, Behne R, D’Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 Oct;40:101575. doi: 10.1016/j.scr.2019.101575. Epub 2019 Sep 11. PMID: 31525725; PMCID: PMC7269118.

Ebrahimi-Fakhari D, Hussong J, Flotats-Bastardas M, Ebrahimi-Fakhari D, Zemlin M, von Gontard A, Meyer S. Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study. Neuropediatrics. 2019 Oct;50(5):294-299. doi: 10.1055/s-0039-1693042. Epub 2019 Jul 2. PMID: 31266065.

Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D. EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics. 2019 Aug;50(4):257-261. doi: 10.1055/s-0039-1692129. Epub 2019 Jun 21. PMID: 31226715.

Ebrahimi-Fakhari D, Mann LL, Poryo M, Graf N, von Kries R, Heinrich B,Ebrahimi-Fakhari D, Flotats-Bastardas M, Gortner L, Zemlin M, Meyer S.Correction to: Incidence of tuberous sclerosis and age at first diagnosis: newdata and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 2019 May 13;14(1):106. doi: 10.1186/s13023-019-1090-9.Erratum for: Orphanet J Rare Dis. 2018 Jul 17;13(1):117. PMID: 31084624; PMCID:PMC6513511.

Ebrahimi-Fakhari D, Münchau A, Stamelou M. A special issue on childhood-onset movement disorders. Mov Disord. 2019 May;34(5):595-597. doi: 10.1002/mds.27663. Epub 2019 Apr 2. PMID: 30938852.

Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A. Movement Disorders in Treatable Inborn Errors of Metabolism. Mov Disord. 2019 May;34(5):598-613. doi: 10.1002/mds.27568. Epub 2018 Dec 17. PMID: 30557456.

2018

Ebrahimi-Fakhari D, Behne R, Davies AK, Hirst J. AP-4-Associated Hereditary Spastic Paraplegia. 2018 Dec 13. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 30543385.

Ebrahimi-Fakhari D, Neubauer B, Plecko B, Wolf NI. Resident and Fellow Section in Neuropediatrics. Neuropediatrics. 2018 Aug;49(4):229-230. doi: 10.1055/s-0038-1666857. Epub 2018 Jun 27. PMID: 29949814.

Ebrahimi-Fakhari D, Mann LL, Poryo M, Graf N, von Kries R, Heinrich B, Ebrahimi-Fakhari D, Flotats-Bastardas M, Gortner L, Zemlin M, Meyer S. Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 2018 Jul 17;13(1):117. doi: 10.1186/s13023-018-0870-y. Erratum in: Orphanet J Rare Dis. 2019 May 13;14(1):106. PMID: 30016967; PMCID: PMC6050673.

Winden KD, Ebrahimi-Fakhari D, Sahin M. Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 Jul 8;41:1-23. doi: 10.1146/annurev-neuro-080317-061747. Epub 2018 Jan 25. PMID: 29490194.

Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 May 21;8(1):7907. doi: 10.1038/s41598-018-26347-y. Erratum in: Sci Rep. 2018 Jul 3;8(1):10294. Erratum in: Sci Rep. 2020 May 13;10(1):8206. PMID: 29784949; PMCID: PMC5962575.

Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr;5(2):149-155. doi: 10.1002/mdc3.12573. Epub 2017 Dec 10. PMID: 29930972; PMCID: PMC6005694.

Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28. PMID: 29193663.

Ebrahimi-Fakhari D. Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. Neuropediatrics. 2018 Feb;49(1):18-25. doi: 10.1055/s-0037-1608652. Epub 2017 Nov 7. PMID: 29112993.

Ebrahimi-Fakhari D, Moufawad El Achkar C, Klein C. PRRT2-Associated Paroxysmal Movement Disorders. 2018 Jan 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 29334453.

2017

Saffari A, Kölker S, Hoffmann GF, Ebrahimi-Fakhari D. Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. J Inherit Metab Dis. 2017 Sep;40(5):631-640. doi: 10.1007/s10545-017-0048-0. Epub 2017 May 5. PMID: 28477283.

Ebrahimi-Fakhari D, Freiman E, Wojcik MH, Krone K, Casey A, Winn AS, Roberts AE, Harper BD. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 Jun;185:248-248.e1. doi: 10.1016/j.jpeds.2017.02.042. Epub 2017 Mar 28. PMID: 28363362; PMCID: PMC5529256.

Lam HC, Baglini CV, Lope AL, Parkhitko AA, Liu HJ, Alesi N, Malinowska IA, Ebrahimi-Fakhari D, Saffari A, Yu JJ, Pereira A, Khabibullin D, Ogorek B, Nijmeh J, Kavanagh T, Handen A, Chan SY, Asara JM, Oldham WM, Diaz-Meco MT, Moscat J, Sahin M, Priolo C, Henske EP. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2017 Jun 15;77(12):3255-3267. doi: 10.1158/0008-5472.CAN-16-2458. Epub 2017 May 16. Erratum in: Cancer Res. 2020 Dec 1;80(23):5424. PMID: 28512249; PMCID: PMC5485875.

Agulnik A, Kelly DP, Bruccoleri R, Yuskaitis C, Ebrahimi-Fakhari D, Sahin M, Burns MM, Kohane DS. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May;139(5):e20161560. doi: 10.1542/peds.2016-1560. PMID: 28557718; PMCID: PMC9923579.

Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L,Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, LohmannK, Kostic V, Klein C. Nomenclature of genetic movement disorders:Recommendations of the International Parkinson and Movement Disorder Societytask force. Mov Disord. 2017 May;32(5):724-725. doi: 10.1002/mds.27045. PMID:28513081.

Ebrahimi-Fakhari D, Saffari A, Wahlster L, Sahin M. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. Autophagy. 2017 Apr 3;13(4):754-756. doi: 10.1080/15548627.2016.1277310. Epub 2017 Jan 25. PMID: 28121223; PMCID: PMC5388227.

2016

Ebrahimi-Fakhari D, Saffari A, Wahlster L, Di Nardo A, Turner D, Lewis TL Jr, Conrad C, Rothberg JM, Lipton JO, Kölker S, Hoffmann GF, Han MJ, Polleux F, Sahin M. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 Oct 18;17(4):1053-1070. doi: 10.1016/j.celrep.2016.09.054. Erratum in: Cell Rep. 2016 Nov 15;17 (8):2162. PMID: 27760312; PMCID: PMC5078873.

Ebrahimi-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H. Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells. Hum Mol Genet. 2016 Aug 15;25(16):3588-3599. doi: 10.1093/hmg/ddw204. Epub 2016 Jul 4. PMID: 27378690; PMCID: PMC5179952.

Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force. Mov Disord. 2016 Apr;31(4):436-57. doi: 10.1002/mds.26527. PMID: 27079681.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. PMID: 26917586; PMCID: PMC4766378.

Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb;139(Pt 2):317-37. doi: 10.1093/brain/awv371. Epub 2015 Dec 29. PMID: 26715604; PMCID: PMC5841365.

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JT, Yu J, Yu L, Yu WH, Yu XF, Yu Z, Yuan J, Yuan ZM, Yue BY, Yue J, Yue Z, Zacks DN, Zacksenhaus E, Zaffaroni N, Zaglia T, Zakeri Z, Zecchini V, Zeng J, Zeng M, Zeng Q, Zervos AS, Zhang DD, Zhang F, Zhang G, Zhang GC, Zhang H, Zhang H, Zhang H, Zhang H, Zhang J, Zhang J, Zhang J, Zhang J, Zhang JP, Zhang L, Zhang L, Zhang L, Zhang L, Zhang MY, Zhang X, Zhang XD, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhao M, Zhao WL, Zhao X, Zhao YG, Zhao Y, Zhao Y, Zhao YX, Zhao Z, Zhao ZJ, Zheng D, Zheng XL, Zheng X, Zhivotovsky B, Zhong Q, Zhou GZ, Zhou G, Zhou H, Zhou SF, Zhou XJ, Zhu H, Zhu H, Zhu WG, Zhu W, Zhu XF, Zhu Y, Zhuang SM, Zhuang X, Ziparo E, Zois CE, Zoladek T, Zong WX, Zorzano A, Zughaier SM. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356. Erratum in: Autophagy. 2016;12(2):443. Selliez, Iban [corrected to Seiliez, Iban]. PMID: 26799652; PMCID: PMC4835977.

Before 2016

Ebrahimi-Fakhari D, Seitz A, Kölker S, Hoffmann GF. Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. Pediatr Neurol. 2015 Dec;53(6):549-50. doi: 10.1016/j.pediatrneurol.2015.08.018. Epub 2015 Sep 3. PMID: 26421988.

Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015 Dec;138(Pt 12):3476-95. doi: 10.1093/brain/awv317. Epub 2015 Nov 23. PMID: 26598493.

Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 Sep;38(5):905-14. doi: 10.1007/s10545-015-9836-6. Epub 2015 Apr 14. PMID: 25868664; PMCID: PMC4841446.

Nie D, Chen Z, Ebrahimi-Fakhari D, Di Nardo A, Julich K, Robson VK, Cheng YC, Woolf CJ, Heiman M, Sahin M. The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. J Neurosci. 2015 Jul 29;35(30):10762-72. doi: 10.1523/JNEUROSCI.4796-14.2015. PMID: 26224859; PMCID: PMC4518051.

DiMario FJ Jr, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun;62(3):633-48. doi: 10.1016/j.pcl.2015.03.005. Epub 2015 Apr 11. PMID: 26022167.

Lipton JO, Yuan ED, Boyle LM, Ebrahimi-Fakhari D, Kwiatkowski E, Nathan A, Güttler T, Davis F, Asara JM, Sahin M. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Cell. 2015 May 21;161(5):1138-1151. doi: 10.1016/j.cell.2015.04.002. Epub 2015 May 14. PMID: 25981667; PMCID: PMC4447213.

Ebrahimi-Fakhari D, Sahin M. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr;28(2):91-102. doi: 10.1097/WCO.0000000000000186. PMID: 25695134.

Hu LY, Shi XY, Feng C, Wang JW, Yang G, Lammers SH, Yang XF, Ebrahimi-Fakhari D, Zou LP. An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies. Eur J Paediatr Neurol. 2015 Mar;19(2):257-61. doi: 10.1016/j.ejpn.2014.12.012. Epub 2014 Dec 23. PMID: 25596064.

Ebrahimi-Fakhari D, Maas B, Haneke C, Niehues T, Hinderhofer K, Assmann BE, Runz H. Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features. Pediatr Neurol. 2015 Jan;52(1):115-8. doi: 10.1016/j.pediatrneurol.2014.08.021. Epub 2014 Sep 17. PMID: 25439488.

Ebrahimi-Fakhari D, Wahlster L, Sahin M. Parkinson’s disease: A disorder of axonal mitophagy? Mov Disord. 2014 Nov;29(13):1582. doi: 10.1002/mds.26047. Epub 2014 Sep 25. PMID: 25256171.

Ebrahimi-Fakhari D, Kang KS, Kotzaeridou U, Kohlhase J, Klein C, Assmann BE. Child Neurology: PRRT2-associated movement disorders and differential diagnoses. Neurology. 2014 Oct 28;83(18):1680-3. doi: 10.1212/WNL.0000000000000936. Erratum in: Neurology. 2015 Jan 6;84(1):105. PMID: 25349275.

Ebrahimi-Fakhari D, Agrawal M, Wahlster L. International electives in the final year of German medical school education–a student’s perspective. GMS Z Med Ausbild. 2014 Aug 15;31(3):Doc26. doi: 10.3205/zma000918. PMID: 25228928; PMCID: PMC4152990.

Ebrahimi-Fakhari D, Wahlster L, Hoffmann GF, Kölker S. Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. Pediatr Res. 2014 Jan;75(1-2):217-26. doi: 10.1038/pr.2013.185. Epub 2013 Oct 28. Erratum in: Pediatr Res. 2014 Sep;76(3):323. PMID: 24165736.

Ebrahimi-Fakhari D, Wahlster L. Modeling Parkinson’s disease in a dish–a story of yeast and men. Mov Disord. 2014 Jan;29(1):34. doi: 10.1002/mds.25781. Epub 2013 Dec 20. PMID: 24375751.

McFarland NR, Dimant H, Kibuuka L, Ebrahimi-Fakhari D, Desjardins CA, Danzer KM, Danzer M, Fan Z, Schwarzschild MA, Hirst W, McLean PJ. Chronic treatment with novel small molecule Hsp90 inhibitors rescues striatal dopamine levels but not α-synuclein-induced neuronal cell loss. PLoS One. 2014 Jan 20;9(1):e86048. doi: 10.1371/journal.pone.0086048. PMID: 24465863; PMCID: PMC3896461.

Ebrahimi-Fakhari D, Saidi LJ, Wahlster L. Molecular chaperones and protein folding as therapeutic targets in Parkinson’s disease and other synucleinopathies. Acta Neuropathol Commun. 2013 Dec 5;1(1):79. doi: 10.1186/2051-5960-1-79. PMID: 24314025; PMCID: PMC4046681.

Ebrahimi-Fakhari D, Wahlster L. Restoring impaired protein metabolism in Parkinson’s disease–TFEB-mediated autophagy as a novel therapeutic target. Mov Disord. 2013 Sep;28(10):1346. doi: 10.1002/mds.25601. PMID: 24078330.

Ebrahimi-Fakhari D. Autophagy and neurodegeneration – genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link. Mov Disord. 2013 Jul;28(8):1050. doi: 10.1002/mds.25563. PMID: 23939684.

Dimant H, Kalia SK, Kalia LV, Zhu LN, Kibuuka L, Ebrahimi-Fakhari D, McFarland NR, Fan Z, Hyman BT, McLean PJ. Direct detection of alpha synuclein oligomers in vivo. Acta Neuropathol Commun. 2013 May 9;1:6. doi: 10.1186/2051-5960-1-6. PMID: 24252244; PMCID: PMC3776213.

Ebrahimi-Fakhari D, McLean PJ, Wahlster L. Proteotoxicity and cardiac dysfunction. N Engl J Med. 2013 May 2;368(18):1754. doi: 10.1056/NEJMc1302511. PMID: 23635069.

Dimant H, Ebrahimi-Fakhari D, McLean PJ. Molecular chaperones and co-chaperones in Parkinson disease. Neuroscientist. 2012 Dec;18(6):589-601. doi: 10.1177/1073858412441372. Epub 2012 Jul 24. PMID: 22829394; PMCID: PMC3904222.

Ebrahimi-Fakhari D, Wahlster L, McLean PJ. Protein degradation pathways in Parkinson’s disease: curse or blessing. Acta Neuropathol. 2012 Aug;124(2):153-72. doi: 10.1007/s00401-012-1004-6. Epub 2012 Jun 29. PMID: 22744791; PMCID: PMC3417142.

Klucken J, Poehler AM, Ebrahimi-Fakhari D, Schneider J, Nuber S, Rockenstein E, Schlötzer-Schrehardt U, Hyman BT, McLean PJ, Masliah E, Winkler J. Alpha-synuclein aggregation involves a bafilomycin A 1-sensitive autophagy pathway. Autophagy. 2012 May 1;8(5):754-66. doi: 10.4161/auto.19371. Epub 2012 May 1. PMID: 22647715; PMCID: PMC3378419.

Ebrahimi-Fakhari D, McLean PJ, Unni VK. Alpha-synuclein’s degradation in vivo: opening a new (cranial) window on the roles of degradation pathways in Parkinson disease. Autophagy. 2012 Feb 1;8(2):281-3. doi: 10.4161/auto.8.2.18938. Epub 2012 Feb 1. PMID: 22301995; PMCID: PMC3336083.

Ebrahimi-Fakhari D, Cantuti-Castelvetri I, Fan Z, Rockenstein E, Masliah E, Hyman BT, McLean PJ, Unni VK. Distinct roles in vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of α-synuclein. J Neurosci. 2011 Oct 12;31(41):14508-20. doi: 10.1523/JNEUROSCI.1560-11.2011. PMID: 21994367; PMCID: PMC3587176.

Unni VK, Ebrahimi-Fakhari D, Vanderburg CR, McLean PJ, Hyman BT. Studying protein degradation pathways in vivo using a cranial window-based approach. Methods. 2011 Mar;53(3):194-200. doi: 10.1016/j.ymeth.2010.12.032. Epub 2010 Dec 25. PMID: 21187150; PMCID: PMC3057351.

Ebrahimi-Fakhari D, Wahlster L, McLean PJ. Molecular chaperones in Parkinson’s disease–present and future. J Parkinsons Dis. 2011;1(4):299-320. PMID: 22279517; PMCID: PMC3264060.

Ebrahimi-Fakhari D, Wahlster L, Mackensen F, Blank N. Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. J Rheumatol. 2010 Oct;37(10):2196-7. doi: 10.3899/jrheum.100290. PMID: 20889617.

Supporting the Rare Disease Community

We believe that the work of our laboratory should not only be confined to advancing science, but that we should also strive to engage the broader community. Through a variety of outreach efforts, we believe that we can help make our scientific communities more inclusive and learn from the diverse perspectives these experiences provide.