Publications

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 D, Carneiro LA, Carnevali O, Carosi JM, Carra S, Carrier A, Carrier L, Carroll B, Carter AB, Carvalho AN, Casanova M, Casas C, Casas J, Cassioli C, Castillo EF, Castillo K, Castillo-Lluva S, Castoldi F, Castori M, Castro AF, Castro-Caldas M, Castro-Hernandez J, Castro-Obregon S, Catz SD, Cavadas C, Cavaliere F, Cavallini G, Cavinato M, Cayuela ML, Cebollada Rica P, Cecarini V, Cecconi F, Cechowska-Pasko M, Cenci S, Ceperuelo-Mallafré V, Cerqueira JJ, Cerutti JM, Cervia D, Cetintas VB, Cetrullo S, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chakrabarti O, Chakraborty T, Chakraborty T, Chami M, Chamilos G, Chan DW, Chan EYW, Chan ED, Chan HYE, Chan HH, Chan H, Chan MTV, Chan YS, Chandra PK, Chang CP, Chang C, Chang HC, Chang K, Chao J, Chapman T, Charlet-Berguerand N, Chatterjee S, Chaube SK, Chaudhary A, Chauhan S, Chaum E, Checler F, Cheetham ME, Chen CS, Chen GC, Chen JF, Chen LL, Chen L, Chen L, Chen M, Chen MK, Chen N, Chen Q, Chen RH, Chen S, Chen W, Chen W, Chen XM, Chen XW, Chen X, Chen Y, Chen YG, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen ZS, Chen Z, Chen ZH, Chen ZJ, Chen Z, Cheng H, Cheng J, Cheng SY, Cheng W, Cheng X, Cheng XT, Cheng Y, Cheng Z, Chen Z, Cheong H, Cheong JK, Chernyak BV, Cherry S, Cheung CFR, Cheung CHA, Cheung KH, Chevet E, Chi RJ, Chiang AKS, Chiaradonna F, Chiarelli R, Chiariello M, Chica N, Chiocca S, Chiong M, Chiou SH, Chiramel AI, Chiurchiù V, Cho DH, Choe SK, Choi AMK, Choi ME, Choudhury KR, Chow NS, Chu CT, Chua JP, Chua JJE, Chung H, Chung KP, Chung S, Chung SH, Chung YL, Cianfanelli V, Ciechomska IA, Cifuentes M, Cinque L, Cirak S, Cirone M, Clague MJ, Clarke R, Clementi E, Coccia EM, Codogno P, Cohen E, Cohen MM, Colasanti T, Colasuonno F, Colbert RA, Colell A, Čolić M, Coll NS, Collins MO, Colombo MI, Colón-Ramos DA, Combaret L, Comincini S, Cominetti MR, Consiglio A, Conte A, Conti F, Contu VR, Cookson MR, Coombs KM, Coppens I, Corasaniti MT, Corkery DP, Cordes N, Cortese K, Costa MDC, Costantino S, Costelli P, Coto-Montes A, Crack PJ, Crespo JL, Criollo A, Crippa V, Cristofani R, Csizmadia T, Cuadrado A, Cui B, Cui J, Cui Y, Cui Y, Culetto E, Cumino AC, Cybulsky AV, Czaja MJ, Czuczwar SJ, D’Adamo S, D’Amelio M, D’Arcangelo D, D’Lugos AC, D’Orazi G, da Silva JA, Dafsari HS, Dagda RK, Dagdas Y, Daglia M, Dai X, Dai Y, Dai Y, Dal Col J, Dalhaimer P, Dalla Valle L, Dallenga T, Dalmasso G, Damme M, Dando I, Dantuma NP, Darling AL, Das H, Dasarathy S, Dasari SK, Dash S, Daumke O, Dauphinee AN, Davies JS, Dávila VA, Davis RJ, Davis T, Dayalan Naidu S, De Amicis F, De Bosscher K, De Felice F, De Franceschi L, De Leonibus C, de Mattos Barbosa MG, De Meyer GRY, De Milito A, De Nunzio C, De Palma C, De Santi M, De Virgilio C, De Zio D, Debnath J, DeBosch BJ, Decuypere JP, Deehan MA, Deflorian G, DeGregori J, Dehay B, Del Rio G, Delaney JR, Delbridge LMD, Delorme-Axford E, Delpino MV, Demarchi F, Dembitz V, Demers ND, Deng H, Deng Z, Dengjel J, Dent P, Denton D, DePamphilis ML, Der CJ, Deretic V, Descoteaux A, Devis L, Devkota S, Devuyst O, Dewson G, Dharmasivam M, Dhiman R, di Bernardo D, Di Cristina M, Di Domenico F, Di Fazio P, Di Fonzo A, Di Guardo G, Di Guglielmo GM, Di Leo L, Di Malta C, Di Nardo A, Di Rienzo M, Di Sano F, Diallinas G, Diao J, Diaz-Araya G, Díaz-Laviada I, Dickinson JM, Diederich M, Dieudé M, Dikic I, Ding S, Ding WX, Dini L, Dinić J, Dinic M, Dinkova-Kostova AT, Dionne MS, Distler JHW, Diwan A, Dixon IMC, Djavaheri-Mergny M, Dobrinski I, Dobrovinskaya O, Dobrowolski R, Dobson RCJ, Đokić J, Dokmeci Emre S, Donadelli M, Dong B, Dong X, Dong Z, Dorn Ii GW, Dotsch V, Dou H, Dou J, Dowaidar M, Dridi S, Drucker L, Du A, Du C, Du G, Du HN, Du LL, du Toit A, Duan SB, Duan X, Duarte SP, Dubrovska A, Dunlop EA, Dupont N, Durán RV, Dwarakanath BS, Dyshlovoy SA, Ebrahimi-Fakhari D, Eckhart L, Edelstein CL, Efferth T, Eftekharpour E, Eichinger L, Eid N, Eisenberg T, Eissa NT, Eissa S, Ejarque M, El Andaloussi A, El-Hage N, El-Naggar S, Eleuteri AM, El-Shafey ES, Elgendy M, Eliopoulos AG, Elizalde MM, Elks PM, Elsasser HP, Elsherbiny ES, Emerling BM, Emre NCT, Eng CH, Engedal N, Engelbrecht AM, Engelsen AST, Enserink JM, Escalante R, Esclatine A, Escobar-Henriques M, Eskelinen EL, Espert L, Eusebio MO, Fabrias G, Fabrizi C, Facchiano A, Facchiano F, Fadeel B, Fader C, Faesen AC, Fairlie WD, Falcó A, Falkenburger BH, Fan D, Fan J, Fan Y, Fang EF, Fang Y, Fang Y, Fanto M, Farfel-Becker T, Faure M, Fazeli G, Fedele AO, Feldman AM, Feng D, Feng J, Feng L, Feng Y, Feng Y, Feng W, Fenz Araujo T, Ferguson TA, Fernández ÁF, Fernandez-Checa JC, Fernández-Veledo S, Fernie AR, Ferrante AW Jr, Ferraresi A, Ferrari MF, Ferreira JCB, Ferro-Novick S, Figueras A, Filadi R, Filigheddu N, Filippi-Chiela E, Filomeni G, Fimia GM, Fineschi V, Finetti F, Finkbeiner S, Fisher EA, Fisher PB, Flamigni F, Fliesler SJ, Flo TH, Florance I, Florey O, Florio T, Fodor E, Follo C, Fon EA, Forlino A, Fornai F, Fortini P, Fracassi A, Fraldi A, Franco B, Franco R, Franconi F, Frankel LB, Friedman SL, Fröhlich LF, Frühbeck G, Fuentes JM, Fujiki Y, Fujita N, Fujiwara Y, Fukuda M, Fulda S, Furic L, Furuya N, Fusco C, Gack MU, Gaffke L, Galadari S, Galasso A, Galindo MF, Gallolu Kankanamalage S, Galluzzi L, Galy V, Gammoh N, Gan B, Ganley IG, Gao F, Gao H, Gao M, Gao P, Gao SJ, Gao W, Gao X, Garcera A, Garcia MN, Garcia VE, García-Del Portillo F, Garcia-Escudero V, Garcia-Garcia A, Garcia-Macia M, García-Moreno D, Garcia-Ruiz C, García-Sanz P, Garg AD, Gargini R, Garofalo T, Garry RF, Gassen NC, Gatica D, Ge L, Ge W, Geiss-Friedlander R, Gelfi C, Genschik P, Gentle IE, Gerbino V, Gerhardt C, Germain K, Germain M, Gewirtz DA, Ghasemipour Afshar E, Ghavami S, Ghigo A, Ghosh M, Giamas G, Giampietri C, Giatromanolaki A, Gibson GE, Gibson SB, Ginet V, Giniger E, Giorgi C, Girao H, Girardin SE, Giridharan M, Giuliano S, Giulivi C, Giuriato S, Giustiniani J, Gluschko A, Goder V, Goginashvili A, Golab J, Goldstone DC, Golebiewska A, Gomes LR, Gomez R, Gómez-Sánchez R, Gomez-Puerto MC, Gomez-Sintes R, Gong Q, Goni FM, González-Gallego J, Gonzalez-Hernandez T, Gonzalez-Polo RA, Gonzalez-Reyes JA, González-Rodríguez P, Goping IS, Gorbatyuk MS, Gorbunov NV, Görgülü K, Gorojod RM, Gorski SM, Goruppi S, Gotor C, Gottlieb RA, Gozes I, Gozuacik D, Graef M, Gräler MH, Granatiero V, Grasso D, Gray JP, Green DR, Greenhough A, Gregory SL, Griffin EF, Grinstaff MW, Gros F, Grose C, Gross AS, Gruber F, Grumati P, Grune T, Gu X, Guan JL, Guardia CM, Guda K, Guerra F, Guerri C, Guha P, Guillén C, Gujar S, Gukovskaya A, Gukovsky I, Gunst J, Günther A, Guntur AR, Guo C, Guo C, Guo H, Guo LW, Guo M, Gupta P, Gupta SK, Gupta S, Gupta VB, Gupta V, Gustafsson AB, Gutterman DD, H B R, Haapasalo A, Haber JE, Hać A, Hadano S, Hafrén AJ, Haidar M, Hall BS, Halldén G, Hamacher-Brady A, Hamann A, Hamasaki M, Han W, Hansen M, Hanson PI, Hao Z, Harada M, Harhaji-Trajkovic L, Hariharan N, Haroon N, Harris J, Hasegawa T, Hasima Nagoor N, Haspel JA, Haucke V, Hawkins WD, Hay BA, Haynes CM, Hayrabedyan SB, Hays TS, He C, He Q, He RR, He YW, He YY, Heakal Y, Heberle AM, Hejtmancik JF, Helgason GV, Henkel V, Herb M, Hergovich A, Herman-Antosiewicz A, Hernández A, Hernandez C, Hernandez-Diaz S, Hernandez-Gea V, Herpin A, Herreros J, Hervás JH, Hesselson D, Hetz C, Heussler VT, Higuchi Y, Hilfiker S, Hill JA, Hlavacek WS, Ho EA, Ho IHT, Ho PW, Ho SL, Ho WY, Hobbs GA, Hochstrasser M, Hoet PHM, Hofius D, Hofman P, Höhn A, Holmberg CI, Hombrebueno JR, Yi-Ren Hong CH, Hooper LV, Hoppe T, Horos R, Hoshida Y, Hsin IL, Hsu HY, Hu B, Hu D, Hu LF, Hu MC, Hu R, Hu W, Hu YC, Hu ZW, Hua F, Hua J, Hua Y, Huan C, Huang C, Huang C, Huang C, Huang C, Huang H, Huang K, Huang MLH, Huang R, Huang S, Huang T, Huang X, Huang YJ, Huber TB, Hubert V, Hubner CA, Hughes SM, Hughes WE, Humbert M, Hummer G, Hurley JH, Hussain S, Hussain S, Hussey PJ, Hutabarat M, Hwang HY, Hwang S, Ieni A, Ikeda F, Imagawa Y, Imai Y, Imbriano C, Imoto M, Inman DM, Inoki K, Iovanna J, Iozzo RV, Ippolito G, Irazoqui JE, Iribarren P, Ishaq M, Ishikawa M, Ishimwe N, Isidoro C, Ismail N, Issazadeh-Navikas S, Itakura E, Ito D, Ivankovic D, Ivanova S, Iyer AKV, Izquierdo JM, Izumi M, Jäättelä M, Jabir MS, Jackson WT, Jacobo-Herrera N, Jacomin AC, Jacquin E, Jadiya P, Jaeschke H, Jagannath C, Jakobi AJ, Jakobsson J, Janji B, Jansen-Dürr P, Jansson PJ, Jantsch J, Januszewski S, Jassey A, Jean S, Jeltsch-David H, Jendelova P, Jenny A, Jensen TE, Jessen N, Jewell JL, Ji J, Jia L, Jia R, Jiang L, Jiang Q, Jiang R, Jiang T, Jiang X, Jiang Y, Jimenez-Sanchez M, Jin EJ, Jin F, Jin H, Jin L, Jin L, Jin M, Jin S, Jo EK, Joffre C, Johansen T, Johnson GVW, Johnston SA, Jokitalo E, Jolly MK, Joosten LAB, Jordan J, Joseph B, Ju D, Ju JS, Ju J, Juárez E, Judith D, Juhász G, Jun Y, Jung CH, Jung SC, Jung YK, Jungbluth H, Jungverdorben J, Just S, Kaarniranta K, Kaasik A, Kabuta T, Kaganovich D, Kahana A, Kain R, Kajimura S, Kalamvoki M, Kalia M, Kalinowski DS, Kaludercic N, Kalvari I, Kaminska J, Kaminskyy VO, Kanamori H, Kanasaki K, Kang C, Kang R, Kang SS, Kaniyappan S, Kanki T, Kanneganti TD, Kanthasamy AG, Kanthasamy A, Kantorow M, Kapuy O, Karamouzis MV, Karim MR, Karmakar P, Katare RG, Kato M, Kaufmann SHE, Kauppinen A, Kaushal GP, Kaushik S, Kawasaki K, Kazan K, Ke PY, Keating DJ, Keber U, Kehrl JH, Keller KE, Keller CW, Kemper JK, Kenific CM, Kepp O, Kermorgant S, Kern A, Ketteler R, Keulers TG, Khalfin B, Khalil H, Khambu B, Khan SY, Khandelwal VKM, Khandia R, Kho W, Khobrekar NV, Khuansuwan S, Khundadze M, Killackey SA, Kim D, Kim DR, Kim DH, Kim DE, Kim EY, Kim EK, Kim HR, Kim HS, Hyung-Ryong Kim, Kim JH, Kim JK, Kim JH, Kim J, Kim JH, Kim KI, Kim PK, Kim SJ, Kimball SR, Kimchi A, Kimmelman AC, Kimura T, King MA, Kinghorn KJ, Kinsey CG, Kirkin V, Kirshenbaum LA, Kiselev SL, Kishi S, Kitamoto K, Kitaoka Y, Kitazato K, Kitsis RN, Kittler JT, Kjaerulff O, Klein PS, Klopstock T, Klucken J, Knævelsrud H, Knorr RL, Ko BCB, Ko F, Ko JL, Kobayashi H, Kobayashi S, Koch I, Koch JC, Koenig U, Kögel D, Koh YH, Koike M, Kohlwein SD, Kocaturk NM, Komatsu M, König J, Kono T, Kopp BT, Korcsmaros T, Korkmaz G, Korolchuk VI, Korsnes MS, Koskela A, Kota J, Kotake Y, Kotler ML, Kou Y, Koukourakis MI, Koustas E, Kovacs AL, Kovács T, Koya D, Kozako T, Kraft C, Krainc D, Krämer H, Krasnodembskaya AD, Kretz-Remy C, Kroemer G, Ktistakis NT, Kuchitsu K, Kuenen S, Kuerschner L, Kukar T, Kumar A, Kumar A, Kumar D, Kumar D, Kumar S, Kume S, Kumsta C, Kundu CN, Kundu M, Kunnumakkara AB, Kurgan L, Kutateladze TG, Kutlu O, Kwak S, Kwon HJ, Kwon TK, Kwon YT, Kyrmizi I, La Spada A, Labonté P, Ladoire S, Laface I, Lafont F, Lagace DC, Lahiri V, Lai Z, Laird AS, Lakkaraju A, Lamark T, Lan SH, Landajuela A, Lane DJR, Lane JD, Lang CH, Lange C, Langel Ü, Langer R, Lapaquette P, Laporte J, LaRusso NF, Lastres-Becker I, Lau WCY, Laurie GW, Lavandero S, Law BYK, Law HK, Layfield R, Le W, Le Stunff H, Leary AY, Lebrun JJ, Leck LYW, Leduc-Gaudet JP, Lee C, Lee CP, Lee DH, Lee EB, Lee EF, Lee GM, Lee HJ, Lee HK, Lee JM, Lee JS, Lee JA, Lee JY, Lee JH, Lee M, Lee MG, Lee MJ, Lee MS, Lee SY, Lee SJ, Lee SY, Lee SB, Lee WH, Lee YR, Lee YH, Lee Y, Lefebvre C, Legouis R, Lei YL, Lei Y, Leikin S, Leitinger G, Lemus L, Leng S, Lenoir O, Lenz G, Lenz HJ, Lenzi P, León Y, Leopoldino AM, Leschczyk C, Leskelä S, Letellier E, Leung CT, Leung PS, Leventhal JS, Levine B, Lewis PA, Ley K, Li B, Li DQ, Li J, Li J, Li J, Li K, Li L, Li M, Li M, Li M, Li M, Li M, Li PL, Li MQ, Li Q, Li S, Li T, Li W, Li W, Li X, Li YP, Li Y, Li Z, Li Z, Li Z, Lian J, Liang C, Liang Q, Liang W, Liang Y, Liang Y, Liao G, Liao L, Liao M, Liao YF, Librizzi M, Lie PPY, Lilly MA, Lim HJ, Lima TRR, Limana F, Lin C, Lin CW, Lin DS, Lin FC, Lin JD, Lin KM, Lin KH, Lin LT, Lin PH, Lin Q, Lin S, Lin SJ, Lin W, Lin X, Lin YX, Lin YS, Linden R, Lindner P, Ling SC, Lingor P, Linnemann AK, Liou YC, Lipinski MM, Lipovšek S, Lira VA, Lisiak N, Liton PB, Liu C, Liu CH, Liu CF, Liu CH, Liu F, Liu H, Liu HS, Liu HF, Liu H, Liu J, Liu J, Liu J, Liu 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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.

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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.