Publications of the team

ORIGINAL ARTICLES (since 2011, creation of the team)


  1. Durand CM*, Dhers L*, Tesson C, Tessa A, Fouillen L, Jacquere S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G*, Goizet C* (*equal contribution). CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Hum Mut 2018, 39:140-151 (advance online Nov 11 2017). IF 4.6
  2. Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5. Brain 2018, 141:72-84 (Advance online december 8 2017). IF 10.3
  3. Trimouille A, Obre E, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C. An in-frrame deletion in BICD2 associated with a non-progressive forme of SMALED. Clin Neurol Neurosurg 2018, 166: 1-3. IF 1.1
  4. Mendoza Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Lohr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet 2018, 4:e209.
  5. Coutelier M, Brice A, Stevanin G, Durr A. Reply: Updated frequency of spinocerebellar ataxia in China. Brain 2018, 141:e23 (advance online february 2018). IF 10.3
  6. Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. SCA Tethering-PCR: a rapid genetic test for the diagnosis of SCA1-3, 6 and 7 by PCR and capillary electrophoresis. J Mol Diag 2018, 20:289-297 (advance online february 17). IF 4.2
  7. Donega V, Marcy G, Lo Giudice Q, Zweifel S, Angonin D, Fiorelli R, Abrous DN, Rival-Gervier S, Koehl M, Jabaudon D, Raineteau O. Transcriptional Dysregulation in Postnatal Glutamatergic Progenitors Contributes to Closure of the Cortical Neurogenic Period. Cell Rep 2018, 22:2567-2574. IF 8.3
  8. Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhe M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A, for the SPATAX network. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA Neurol 2018 (advance online Feb 26). IF 10
  9. Newton T, Allison R, Edgar JR, Lumb JH, Roger CE, Manna PT, Rizo T, Kohl Z, Nygren AOH, Arning L, Schule R, Depienne C, Goldberg L, Frahm C, Stevanin G, Durr A, Schols L, Winner B, Beetz C, Reid E. Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia. Brain 2018, 141:1286-1299 (advance online Feb 22). IF 10.3
  10. Bouwkamp C, Afawi Z, Fattal-Valevski A, Krabbendam I, Rivetti S, Masalha R, Quadri M, Breedveld G, Mandel H, Abu Tailakh M, Beverloo B, Stevanin G, Brice A, Van Ijcken W, Vernooij M, Dolga A, de Vrij F, Bonifati V, and Kushner SA. ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia. Neurol Genet 2018, 4:e223.
  11. Elsayed L, Mohammed I, Hamed A, Elseed M, Salih M, Mohamed A, Siddig R, Amin M, Koko M, Elbashir M, Ibrahim M, Brice A, Ahmed A, Stevanin G. Case report of a novel homozygous splice site mutation in PLA2G6 gene causing Infantile Neuroaxonal dystrophy in a Sudanese family. BMC Medical Genetics 2018, 19:72. IF 2.2
  12. Fournier C, Anquetil V, Camuzat A, Stirati-Buron S, Sazdovitch V, Molina-Porcel L, Turbant S, Rinaldi D, Sánchez-Valle R, Barbier M, Latouche M; Neuro-CEB Neuropathology Network, Stevanin G, Seilhean D, Brice A, Duyckaerts C,  Le Ber I. Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of
    frontotemporal dementias. Acta Neuropathol Commun 2018;6(1):41.
  13. Androuin A, Potier B, Näger UV, Cattaert D, Danglot L, Thierry M, Youssef I, Triller A, Duyckaerts C, El Hachimi KH, Dutar P, Delatour B, Marty S. Evidence for altered dendritic spine compartmentalization in Alzheimer’s disease and functional effects in a mouse model. Acta Neuropathol 2018, 135:839-854. IF 12.3
  14. Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puche JP Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El-Hachimi KH, Stevanin G*, Darios F* (*co-last authors).  Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration. Cell Reports 2018, 23:3813–3826. IF 8.3
  15. Ben Romdhan S, Farhat N, Nasri A, Lesage S, Hdiji O, Ben Djebara M, Landouisi Z, Stevanin G, Brice A, Damak M, Gouider R, Mhiri C. LRRK2 G2019S Parkinson’s disease with more benign phenotype than idiopathic. Acta Neurologica Scanda 2018 (Advance online July 10). IF 3
  16. Viodé A, Fournier C, Camuzat A, Fenaille F; NeuroCEB Brain Bank, Latouche M,
    Elahi F, Ber IL, Junot C, Lamari F, Anquetil V, Becher F. New Antibody-Free Mass
    Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is
    Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers. Front
    Neurosci 2018;12:589. IF 3.6
  17. Zweifel S, Marcy G, Lo Guidice Q, Li D, Heinrich C, Azim K, Raineteau O. HOPX Defines Heterogeneity of Postnatal Subventricular Zone Neural Stem Cells. Stem Cell Reports 2018;11(3):770-783. IF 6.5

  18. Yahia A, Elsayed L, Babai A, Salih MA, El-Sadig SM, Amin M, Koko M, Abubakr R, Idris R, Taha SOMA, Elmalik SA, Brice A, Ahmed AE, Stevanin G. Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report. BMC Neurol 2018,18:75. IF 2.2


  1. Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Johnson A, Mairey M, Mohamed HESA, Idris MN, Salih MAM, El-sadig SM, Koko ME, Mohamed AYO, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AKMA, Babi AMA, Malik HMO, Omer ZMBM, Mohamed EOE, Eltahir HB, Magboul NAA, Bushara EE, Elnour A, Rahim SMA, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G. Hereditary spastic paraplegias: Identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. Eur J Hum Genet 2017, 25:100-110. IF 4.6
  2. Van Marldergem L, Besse A, de Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE. POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. Ann Clin Translational Neurol 2017, 4:4-14.
  3. Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, LeBer I, van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al Chalabi A. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiol Aging 2017, 51:178.e1-178.e9. IF 5.1
  4. Lavie J, Serrat R, Bellance N, Courtand G, Dupuy JW, Tesson C, Coupry I, Brice A, Lacombe D, Durr A, Stevanin G, Darios F, Rossignol R, Goizet C, Bénard G. Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation. Hum Mol Genet 2017, 26:674-685. IF 6
  5. Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El-Hachimi KH, Stevanin G*, Darios F* (*colast authors). Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration. Neurobiol dis 2017, 102:21-37. IF 4.9
  6. Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain 2017;140(6):1579-1594. IF 10
  7. Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB. SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis 2017;17(4-5):208-212. IF 2.8
  8. Teyssou E, Chartier L, Amador MD, Lam R, Lautrette G, Nicol M, Machat S, Da Barroca S, Moigneu C, Mairey M, Larmonier T, Saker S, Dussert C, Forlani S, Fontaine B, Seilhean D, Bohl D, Boillée S, Meininger V, Couratier P, Salachas F, Stevanin G, Millecamps S. Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis. Neurobiol Aging 2017 (Advance online Jun 24). IF 5.1
  9. Dard R, Meyniel C, Touitou V, Stevanin G, Lamari F, Durr A, Ewenczyk C, Mochel F. Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. Eur J Med Genet 2017 (advance online Aug 14). IF 2
  10. Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. Eur J Hum Genet 2017, 25: 1217-1228 (Advance online Aug 23). IF 4.6


  1. Denora PS, Smets K, Zolfanelli F, Ceuterick-de-Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G*, Martin JJ, El-Hachimi K. Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. Brain 2016, 139:1723-1734. IF 10.1
  2. Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A. A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal recessive juvenile-onset Parkinson disease. Ann Neurol 2016, 79(2):335-337. IF 9.6
  3. Coutelier M, Mochel F, Saudubray JM, Ottolenghi C, Stevanin G. Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain 2016, 139: e4. IF 10.1
  4. Bettencourt C, Hensman Moss DJ, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P, SPATAX network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L. DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Ann Neurol 2016, 79:983-990 . IF 9.6
  5. Wang Y, Hersheson J, Lopez D, Ben Hamad M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R, Hentati F, Baudry N, Tran J, Singleton AB, Coutelier M, Brice A, Stevanin G, Durr A, Bi X, Houlden H, Baudry M. Defects in the CAPN1gene result in alterations in cerebellar development and in cerebellar ataxia in miceand humans. Cell Rep 2016, 16:79-81. IF 7.8
  6. Mariani LL*, Tesson C*, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noel S, Peuvion JN, Bachoud-Lévi AC, Brice A, Stevanin G, Durr A (* co-first authors). Expanding the spectrum of genes involved in Huntington disease: a combined clinical and genetic approach. JAMA Neurol 2016 (avance online Jul 11). IF 7.8
  7. Alves S, Marais T, Biferi MG, Furling D, Marinello M, El-Hachimi KH, Cartier N, Ruberg M, Stevanin G, Brice A, Barkats M, Sittler A. Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins. Mol Neurodeg 2016 (advance on line Jul 28). IF 6.5


  1. Mamaï O, Boussofara L, Denguezli M, Escande-Beillard N, Kraeim W, Merriman B, Ben Charfeddine I, Stevanin G, Bouraoui S, Amara A, Mili A, Nouira R, H’mida D, Sriha B, Gribaa M, Saad A, Reversade B. Multiple Self-healing Palmoplantar Carcinoma (MSPC): a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions. J Invest Dermatol 2015, 135:304-308.  IF 6.2
  2. Obayashi M*, Stevanin G*, Synofzik M, Monin ML, Duyckaerts C, Sato N, Streichenberger N, Vighetto A, Desestret V, Tesson C, Wichmann HE, Illig T, Huttenlocher J, Kita Y, Izumi Y, Mizusawa H, Schols L, Klopstock T, Brice A, Ishikawa K, Durr A (*co-first authors). Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. J Neurol Neurosurg Psy 2015, 86:986-995. IF 5.6
  3. Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 2015, 30: 262-266. IF 5.6
  4. Lossos A*, Stumpfig C*, Stevanin G*, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R (*co-first authors). Fe/S Protein Assembly Gene IBA57 Mutation Causes Hereditary Spastic Paraplegia. Neurology 2015, 84: 659-667. IF 8.3
  5. Monin ML, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, Forlani S, Stevanin G, Brice A, Durr A. Survival and severity in dominant cerebellar ataxias. Ann Clin Trans Neurol 2015, 2:202-207.
  6. Hopfner F*, Stevanin G*, Muller SH, Mundwiller E, Bungeroth M, Durr A, Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G, Brice A#, Kuhlenbaumer G# (*co-first authors, # co-last authors). The impact of rare variants in FUS in essential tremor. Mov Disord 2015; 30(5):721-724. IF 5.6
  7. Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fado R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, DeMichele G, Santorelli FM, Filla A, Stevanin G, Durr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH. Mutation in CPT1C causes pure autosomal dominant spastic paraplegia. JAMA Neurol 2015; 72(5):561-570. IF 7.8
  8. Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Mihl M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Heron D, Stevanin G, Durr A. GRID2 mutations span from congenital to mild adult onset cerebellar ataxia. Neurology 2015; 84(17):1751-1759. IF 8.3
  9. Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015 138: 2191-2205. IF 10.1
  10. Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R. Junctophilin 3 (JPH3) expansion mutations causing huntington disease like 2 (HDL2) are common in south african patients with African ancestry and a Huntington disease phenotype. Am J Med Genet Part B Neuropsy Genet 2015, 168: 573-585. IF 2.2
  11. Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Durr A, Anheim M, Gellera C, Li J, Zuchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Hum Mol Genet 2015, 24: 4984-4996. IF 6.8
  12. Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N’Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Ann Neurol 2015, 78:871-886. IF 9.6
  13. Coutelier M*, Blesneac I*, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Leber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P*, Stevanin G*# (cofirst or co-last authors, #corresponding author). A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium channel conduction and causes autosomal dominant cerebellar ataxia. Am J Hum Genet 2015, 97: 726-737. IF 11
  14. Jahic A, Khundadze M, Jaenisch N, Schule R, Klimpe S, Klebe S, Frahm C, Kassubel J, Stevanin G, Schols L, Brice A, Hubner C, Beetz C. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Orphanet J Rare Dis 2015, 10: 147 (advance online Nov 16). IF 4


  1. Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet 2014, 51:137-142. IF 5.7
  2. Synofzik M, Gonzalez MA, Marques Lourenço C, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S. PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2014, 139:69-77. IF 10.1
  3. Esteves T, Durr A, Mundwiller E, Loureiro J, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G#, Darios F# (# co-last authors). Loss of association of REEP2 to membranes leads to hereditary spastic paraplegia. Am J Hum Genet 2014, 94:268-277. IF 11
  4. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellatef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science 2014, 343:506-511. IF 31
  5. Khan AO, AlDrees A, Elmalik SA, Hassan HH, Koenig M, Stevanin G, Azzedine H, Salih MA. Ophthalmic features of PLA2G6-related pediatric neurodegeneration with brain iron accumulation. Br J Ophthalmol 2014, 98:889-893. IF 2.8
  6. Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology  2014, 82: 1068-1075. IF 8.3
  7. Tezenas du Montcel S, Durr A, Rakowics M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hubsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Bela M, Boesch S, Szymanski S, Berciano J, Infante J, Buerck K, Masciullo M, di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Prediction of the age at onset in spinocerebellar ataxia type 1,2,3 and 6. J Med Genet 2014, 51:479-486. IF 5.7
  8. Alves S, Cormier-Dequaire F*, Marinello M*, Marais T, Muriel MP, Beaumatin F, Chrabonnier-Beaupel F, Tahiri K, Seilhean D, El-Hachimi KH, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A (* co-second authors). The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice. Acta Neuropathol 2014, 128: 705-722.  IF 9.7
  9. Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BPC, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, the Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA), the EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain 2014, 137: 2444-2455. IF 10.1
  10. Delplanque J, Devos D, Huin V, Genet A, Sand O, Goizet C, Charles P, Anheim M, Monin ML, Moreau C, Buée L, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Destée A, Brice A, Stevanin G, Strubi-Vuillaume I, Durr A, Sablonnière B. TMEM240 mutations cause spinocerebellar ataxia with severe cognitive impairment. Brain 2014, 137: 2657-2663. IF 10.1
  11. Di Gregorio E, Borroni B, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi P, Duregon E, Giulio M, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. ELOVL5 mutations cause spinocerebellar ataxia 38. Am J Hum Genet 2014, 95: 209-217. IF 11
  12. Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E, For The French Research Network on FTD and FTD-ALS. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology 2014, 83:990-995. IF 8.3
  13. Dorboz I, Coutelier M, Bertrand AT, Caberg JH, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O and Servais L. Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis 2014, 9:174. IF 4


  1. Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Durr A, Stevanin G, Leguern E, Brice A, Labauge PM, de Seze J. Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy and skin biopsy abnormality. Eur J Neurol 2013, 20: 398-401. IF 4.2
  2. Martin E*, Schule R*, Smets K*, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Caballero Oteyza A, Durr A, Martin JJ, Schols L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A#, and Stevanin G# (* co-first authors; # co-corresponding authors). Loss of Function of Glucocerebrosidase GBA2 is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia. Am J Hum Genet 2013, 92: 238-244. IF 11
  3. Jezierska J, Stevanin G, Watanabe H, Fokkens M, Zagnoli F, Kok J, Goas JY, Bertrand P, Robin C, Brice A, Bakalkin G, Durr A, Verbeek DS. Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. J Neurol 2013, 260:1807-1812. IF 3.6
  4. Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a Portuguese survey. Arch Neurol 2013, 70:481-487 . IF 7.8
  5. Chort A*, Alves S*, Marinello M, Dufresnois B, Dornbierer JG, Tesson C, Latouche M, Baker D, Barkats M, El-Hachimi KH, Ruberg M, Janer A, Stevanin G, Brice A, Sittler A (* co-first authors). Interferon-beta induces clearance of mutant Ataxin-7 and improves locomotion in SCA7 knock-in mice. Brain 2013, 136:1732-1745. IF 9.9
  6. Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolas H, Roig C, Corral J, Campos B, De Jorge L, Morcillo-Suarez C, Navarro A, Forlani S, Durr A, Kulisevski J, Brice A, Sanchez I, Volpini V, Matilla-Duenas A. New spinocerebellar ataxia with altered vertical eye movements mapping to 1p32. JAMA Neurol2013, 70:764-771. IF 7.8
  7. Boukhris A, Schule R, Loureiro JL, Marques Lourenço C, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques Jr W, Brice A, Durr A, Zuchner S, Stevanin G. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet 2013, 93:118-123. IF 11
  8. Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AMA, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani F, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F and Brusco A. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. J Med Genet 2013, 50:543-551. IF 5.7
  9. Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A. Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. BMC Med Genomics 2013 Jun 18; 6:22. doi: 10.1186/1755-8794-6-22. IF 3.5
  10. Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, Leguern E, Senderek J, Rivolta C, Chrast R. PLEKHG5 deficiency leads to an intermediate form of autosomal recessive Charcot-Marie-Tooth disease. Hum Mol Genet 2013, 22: 4224-4232. IF 6.8
  11. Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez M, Speziani F, Dürr A, Stevanin G, Biesecker LG; for the NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12. Hum Mut 2013, 34:1357-1360. IF 5.2
  12. Chaunu MP, Deramecourt V, Buée-Scherrer V, Le Ber I, Brice A, Ehrle N, KH El Hachimi, Pluot M, Maurage CA, Bakchine S, Buée L. Juvenile frontotemporal dementia with parkinsonism associated with Tau mutation G389R. J Alzheimers dis 2013, 37:769-776. IF 4.2
  13. Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HMS, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G#, Azzedine H# ( # co-last authors). New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLOS-one 2013, 8: e76831 (advance online October 9). IF 3.7
  14. Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA. SYNE1 mutations in autosomal recessive cerebellar ataxia. JAMA Neurol 2013, 70:1296-1301. IF 7.8


  1. Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Djarmati A, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Charbonnier-Beaupel F, Corvol JC, Vidailhet M, Klein C, Dusart I, Brice A, and Roze E. RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans. Am J Hum Genet 2012, 90:301-307. IF 11
  2. Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet 2012, 20:645-649. IF 4.3
  3. Martin E, Yanicostas C, Rastetter A, Alavi-Naini SM, Maouedj A, Kabashi E, Rivaud-Pechoux S, Brice A, Stevanin G*, Soussi-Yanicostas N* (* co-last authors). Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish. Neurobiol dis 2012, 48:299-308. IF 5.6
  4. Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst S, Bird T, White KP, Gomez CM. A conserved eEF2 Coding Variant in SCA26 leas to a Loss of Translational Fidelity and Increased Susceptibility to Proteostatic Insult. Hum Mol Genet 2012, 21: 5472-5483. IF 6.8
  5. Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A. Decision-making for SPG7 testing in hereditary spastic paraparesis and optic neuropathy. Brain 2012, 135:2980-2993. IF 10.1
  6. Tesson C, Nawara M, Salih MAM, Rossignol R, Zaki M, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Caballero-Oteyza A, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, El Malik SA,  Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Alteration of fatty acid-metabolizing enzymes affects mitochondrial functions in hereditary spastic paraplegia. Am J Hum Genet 2012, 91: 1051-1064. IF 11
  7. Yanicostas C, Barbieri E, Hibi M, Brice A, Stevanin G, Soussi-Yanicostas N. Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PLoS One 2012, 7:e50705. IF 3.7
  8. Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkotai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M#, Stevanin G#, Soong BW#. (# co-last authors). Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol 2012, 72:859-869. IF 9.6


  1. Assami S, Azzedine H, Nouioua S, Mundwiller E, Mahoui S, Makri S, Djemai M, Grid D,  Brice A, Hamadouche T, Stevanin G and Tazir M. Panthothenate kinase-associated neurodegeneration: clinical description of 10 patients and new mutations. Mov Dis 2011, 26:1777-1779. IF 4.6
  2. Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G. Cellular distribution and subcellular localisaztion of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol Cell Neuroscie 2011, 47:191-202. IF 3.8
  3. Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrad-Hernandez AN, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. REEP1 Mutations in SPG31: Frequency, Mutational Spectrum and Potential Association with Mitochondrial Morpho-functional Dysfunction. Hum Mut 2011, 32:1118-1127. IF 5.2
  4. Ishikawa K, Durr A, Klopstock T, Muller S, De Toffol B, Vidailhet M, Vighetto A, Marelli C, Wichmann HE, Illig T Niimi Y, Sato N, Amino T, Stevanin G, Brice A, Mizusawa H. Diverse and unstable pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. Neurology 2011, 77:1853-1855. IF 8.3

BOOKS and REVIEWS (since 2011)

  1. Stevanin G, Depienne C, Boukhris A, Goizet C. Paraplégies spastiques héréditaires (Chapitre 14). In “Neurogénétique”, collection Traités de neurologie, eds Depienne C, Goizet C, Brice A. Doin, 2011 ; pp207-225.
  2.  Anheim M, Goizet C, Stevanin G. Ataxies cérébelleuses héréditaires (Chapitre 13). In “Neurogénétique”, collection Traités de neurologie, eds Depienne C, Goizet C, Brice A. Doin, 2011 ; pp183-206.
  3.  Marelli C, Cazeneuve C, Brice A, Stevanin G, Durr A. Autosomal dominant cerebellar ataxias. Rev Neurol 2011, 167: 385-400. IF 0.5
  4.  Stevanin G, Durr A. Spinocerebellar ataxia 13 and 25 (Chapter 35). In Handbook of Clinical Neurology, 3rd edition, Ataxic Disorders, SH Subramony and A Durr, eds. Elsevier 2011. Handb Clin Neurol 2012, 103: 549-553.
  5. Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditarty spastic paraplegias with autosomal dominant, recessive, X-linked or maternal trait of inheritance. J Neurol Scie 2012, 218 :1-18. IF 2.2
  6. Stevanin G, Dürr A, Brice A. Spastic Paraplegia 11. 2008 Mar 27 [Updated 2013 Jan 31]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Bookshelf ID: NBK1210PMID: 20301389. Available from:
  7. Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinstein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sanchez I. Consensus Paper: Pathological Mechanisms underlying neurodegeneration in Spinocerebellar Ataxias. The Cerebellum 2014, 13: 269-302. IF 2.6
  8. Puech B, De Laey JJ, Stevanin G. Chapter 31: Spatic paraplegia and retinal degeneration: Kjellin Syndrome. B. In Puech B, De Laey JJ & Holder GE (eds.), Inherited Chorioretinal Dystrophies, Springer-Verlag Berlin Heidelberg, 2014; pages 307-313.
  9. Puech B, Stevanin G, Zanlonghi X. Chapter 28: Spinocerebellar ataxia 7. In Puech B, De Laey JJ & Holder GE (eds.), Inherited Chorioretinal Dystrophies, Springer-Verlag Berlin Heidelberg, 2014; pages 287-292.
  10. Tesson C, Koht J, Stevanin G. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet 2015; 134(6):511-538. IF 4.5
  11. Coutelier M, Stevanin G, Brice A. Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. J Neurol 2015, 262:2382-2395. IF 3.8
  12. Klebe S, Stevanin G, Depienne C. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol (Paris) 2015, 171:505-530. IF 0.6
  13. Parodi L, Fenu S, Stevanin G, Durr A. Hereditary spastic paraplegia: More than an upper motor neuron disease. Rev Neurol (Paris) 2017, 173:352-360. IF 0.6