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1.

Error occurred: cannot get document summary

PMID:
24250758

2.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

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.

Brain. 2017 Dec 8. doi: 10.1093/brain/awx297. [Epub ahead of print]

PMID:
29228183
3.

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré 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.

Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11.

PMID:
29034544
4.

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G.

Eur J Hum Genet. 2017 Nov;25(11):1217-1228. doi: 10.1038/ejhg.2017.124. Epub 2017 Aug 23.

5.

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.

Dard R, Meyniel C, Touitou V, Stevanin G, Lamari F, Durr A, Ewenczyk C, Mochel F.

Eur J Med Genet. 2017 Dec;60(12):639-642. doi: 10.1016/j.ejmg.2017.08.015. Epub 2017 Aug 14.

PMID:
28818478
6.

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.

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.

Neurobiol Aging. 2017 Oct;58:239.e11-239.e20. doi: 10.1016/j.neurobiolaging.2017.06.018. Epub 2017 Jun 24.

PMID:
28716533
7.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

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.

Neurodegener Dis. 2017;17(4-5):208-212. doi: 10.1159/000464445. Epub 2017 May 31.

8.

Hereditary spastic paraplegia: More than an upper motor neuron disease.

Parodi L, Fenu S, Stevanin G, Durr A.

Rev Neurol (Paris). 2017 May;173(5):352-360. doi: 10.1016/j.neurol.2017.03.034. Epub 2017 Apr 24. Review.

PMID:
28449883
9.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

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.

Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081.

PMID:
28444220
10.

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.

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.

Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22.

11.

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem 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.

Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan.

12.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

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, Le Ber 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.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

13.

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.

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.

Hum Mol Genet. 2017 Feb 15;26(4):674-685. doi: 10.1093/hmg/ddw425.

PMID:
28007911
14.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Elsayed LE, Mohammed IN, Hamed AA, Elseed MA, Johnson A, Mairey M, Mohamed HE, Idris MN, Salih MA, El-Sadig SM, Koko ME, Mohamed AY, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AK, Babai AM, Malik HM, Omer ZM, Mohamed EO, Eltahir HB, Magboul NA, Bushara EE, Elnour A, Rahim SM, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G.

Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7.

15.

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.

Alves S, Marais T, Biferi MG, Furling D, Marinello M, El Hachimi K, Cartier N, Ruberg M, Stevanin G, Brice A, Barkats M, Sittler A.

Mol Neurodegener. 2016 Jul 28;11(1):58. doi: 10.1186/s13024-016-0123-2.

16.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Mariani LL, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noël S, Peuvion JN, Bachoud-Levi AC, Brice A, Stevanin G, Durr A.

JAMA Neurol. 2016 Sep 1;73(9):1105-14. doi: 10.1001/jamaneurol.2016.2215.

PMID:
27400454
17.

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.

Wang Y, Hersheson J, Lopez D, Hammer 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.

Cell Rep. 2016 Jun 28;16(1):79-91. doi: 10.1016/j.celrep.2016.05.044. Epub 2016 Jun 16.

18.

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Bettencourt C, Hensman-Moss D, 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.

Ann Neurol. 2016 Jun;79(6):983-90. doi: 10.1002/ana.24656. Epub 2016 May 6.

19.

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

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 KH.

Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25.

PMID:
27016404
20.

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

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.

Ann Neurol. 2016 Feb;79(2):335-7. doi: 10.1002/ana.24591. Epub 2016 Jan 19. No abstract available.

PMID:
26703368

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