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Items: 1 to 50 of 113

1.

Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease.

Cormier-Dequaire F, Bekadar S, Anheim M, Lebbah S, Pelissolo A, Krack P, Lacomblez L, Lhommée E, Castrioto A, Azulay JP, Defebvre L, Kreisler A, Durif F, Marques-Raquel A, Brefel-Courbon C, Grabli D, Roze E, Llorca PM, Ory-Magne F, Benatru I, Ansquer S, Maltête D, Tir M, Krystkowiak P, Tranchant C, Lagha-Boukbiza O, Lebrun-Vignes B, Mangone G, Vidailhet M, Charbonnier-Beaupel F, Rascol O, Lesage S, Brice A, Tezenas du Montcel S, Corvol JC; BADGE-PD study group.

Mov Disord. 2018 Dec;33(12):1878-1886. doi: 10.1002/mds.27519. Epub 2018 Nov 16.

PMID:
30444952
2.

Mitochondrial disease and amyloidosis in a patient with familial polyneuropathy.

Gebus O, Fleury M, Chanson JB, Anheim M, Tranchant C, Echaniz-Laguna A.

Eur J Neurol. 2018 Nov;25(11):e118-e119. doi: 10.1111/ene.13767. No abstract available.

PMID:
30306720
3.

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B.

Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4.

4.

Prospective study of relevance of 123I-MIBG myocardial scintigraphy and clonidine GH test to distinguish Parkinson's disease and multiple system atrophy.

Alves Do Rego C, Namer IJ, Marcel C, Lefebvre F, Lagha-Boukbiza O, Renaud M, Tranchant C, Anheim M.

J Neurol. 2018 Sep;265(9):2033-2039. doi: 10.1007/s00415-018-8941-5. Epub 2018 Jun 28.

PMID:
29956027
5.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

PMID:
29955172
6.

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M; French Parkinson’s and Movement Disorders Consortium.

JAMA Neurol. 2018 Oct 1;75(10):1234-1245. doi: 10.1001/jamaneurol.2018.1478.

PMID:
29913018
7.

The genetic nomenclature of recessive cerebellar ataxias.

Rossi M, Anheim M, Durr A, Klein C, Koenig M, Synofzik M, Marras C, van de Warrenburg BP; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders.

Mov Disord. 2018 Jul;33(7):1056-1076. doi: 10.1002/mds.27415. Epub 2018 May 14. Review.

PMID:
29756227
8.

Progressive encephalomyelitis with rigidity and myoclonus, a diagnostic challenge.

Wirth T, Kaeuffer C, Chanson JB, Echaniz-Laguna A, Renaud M, Anheim M, Schneider F, Tranchant C.

Rev Neurol (Paris). 2018 May;174(5):343-346. doi: 10.1016/j.neurol.2017.09.012. Epub 2018 Apr 22. No abstract available.

PMID:
29685428
9.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

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, Vidailhet 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; Spastic Paraplegia and Ataxia Network.

JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121.

PMID:
29482223
10.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

11.

Health-Related Quality of Life Is Severely Affected in Primary Orthostatic Tremor.

Maugest L, McGovern EM, Mazalovic K, Doulazmi M, Apartis E, Anheim M, Bourdain F, Benchetrit E, Czernecki V, Broussolle E, Bonnet C, Falissard B, Jahanshahi M, Vidailhet M, Roze E.

Front Neurol. 2018 Jan 15;8:747. doi: 10.3389/fneur.2017.00747. eCollection 2017.

12.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.

JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.

PMID:
29356829
13.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Mariani LL, Rivaud-Péchoux S, Charles P, Ewenczyk C, Meneret A, Monga BB, Fleury MC, Hainque E, Maisonobe T, Degos B, Echaniz-Laguna A, Renaud M, Wirth T, Grabli D, Brice A, Vidailhet M, Stoppa-Lyonnet D, Dubois-d'Enghien C, Le Ber I, Koenig M, Roze E, Tranchant C, Durr A, Gaymard B, Anheim M.

Sci Rep. 2017 Nov 10;7(1):15284. doi: 10.1038/s41598-017-15127-9.

14.

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group.

Ann Neurol. 2017 Dec;82(6):892-899. doi: 10.1002/ana.25084. Epub 2017 Nov 21.

PMID:
29059497
15.

Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease.

Wirth T, Weibel S, Montaut S, Bigaut K, Rudolf G, Chelly J, Tranchant C, Anheim M.

Parkinsonism Relat Disord. 2017 Aug;41:127-129. doi: 10.1016/j.parkreldis.2017.05.014. Epub 2017 May 19. No abstract available.

PMID:
28549837
16.

Enteric alpha-synuclein pathology in LRRK2-G2019S Parkinson's disease.

Rouaud T, Clairembault T, Coron E, Neunlist M, Anheim M, Derkinderen P.

Parkinsonism Relat Disord. 2017 Jul;40:83-84. doi: 10.1016/j.parkreldis.2017.05.001. Epub 2017 May 3. No abstract available.

PMID:
28483388
17.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M.

J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6.

PMID:
28478596
18.

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
19.

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.

Carré G, Marelli C, Anheim M, Geny C, Renaud M, Rezvani HR, Koenig M, Guissart C, Tranchant C.

J Neurol Sci. 2017 May 15;376:198-201. doi: 10.1016/j.jns.2017.03.021. Epub 2017 Mar 16.

PMID:
28431612
20.

Subacute parkinsonism as a complication of Lyme disease.

Pisché G, Koob M, Wirth T, Quenardelle V, Lagha-Boukbiza O, Renaud M, Anheim M, Tranchant C.

J Neurol. 2017 May;264(5):1015-1019. doi: 10.1007/s00415-017-8472-5. Epub 2017 Mar 27. No abstract available.

PMID:
28349210
21.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
22.

Parkinsonian-Pyramidal syndromes: A systematic review.

Tranchant C, Koob M, Anheim M.

Parkinsonism Relat Disord. 2017 Jun;39:4-16. doi: 10.1016/j.parkreldis.2017.02.025. Epub 2017 Feb 22. Review.

PMID:
28256436
23.

SCA13 causes dominantly inherited non-progressive myoclonus ataxia.

Montaut S, Apartis E, Chanson JB, Ewenczyk C, Renaud M, Guissart C, Muller J, Legrand AP, Durr A, Laugel V, Koenig M, Tranchant C, Anheim M.

Parkinsonism Relat Disord. 2017 May;38:80-84. doi: 10.1016/j.parkreldis.2017.02.012. Epub 2017 Feb 11.

PMID:
28216058
24.

Low cancer prevalence in polyglutamine expansion diseases.

Coarelli G, Diallo A, Thion MS, Rinaldi D, Calvas F, Boukbiza OL, Tataru A, Charles P, Tranchant C, Marelli C, Ewenczyk C, Tchikviladzé M, Monin ML, Carlander B, Anheim M, Brice A, Mochel F, Tezenas du Montcel S, Humbert S, Durr A.

Neurology. 2017 Mar 21;88(12):1114-1119. doi: 10.1212/WNL.0000000000003725. Epub 2017 Feb 15.

PMID:
28202696
25.

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N.

Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5.

26.

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.

Renaud M, Marcel C, Rudolf G, Schaeffer M, Lagha-Boukbiza O, Chanson JB, Chelly J, Anheim M, Tranchant C.

BMC Neurol. 2016 Nov 23;16(1):238.

27.

Reponse to J. Finsterer and S. Zarrouk-Mahjoub.

Tranchant C, Anheim M.

Rev Neurol (Paris). 2016 Nov;172(11):717-718. doi: 10.1016/j.neurol.2016.09.009. Epub 2016 Oct 19. No abstract available.

PMID:
27771014
28.

Foreword.

Anheim M, Roze E, Defebvre L.

Rev Neurol (Paris). 2016 Aug - Sep;172(8-9):407. doi: 10.1016/j.neurol.2016.08.008. No abstract available.

PMID:
27692122
29.

The wide POLG-related spectrum: An integrated view.

Béreau M, Anheim M, Echaniz-Laguna A, Magot A, Verny C, Goideau-Sevrain M, Barth M, Amati-Bonneau P, Allouche S, Ayrignac X, Bédat-Millet AL, Guyant-Maréchal L, Kuntzer T, Ochsner F, Petiot P, Vial C, Omer S, Sole G, Taieb G, Carvalho N, Tio G, Kremer S, Acquaviva-Bourdain C, de Camaret BM, Tranchant C.

J Neurol Sci. 2016 Sep 15;368:70-6. doi: 10.1016/j.jns.2016.06.062. Epub 2016 Jun 29. No abstract available.

PMID:
27538604
30.

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M.

Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2.

PMID:
27528516
31.

Movement disorders in mitochondrial diseases.

Tranchant C, Anheim M.

Rev Neurol (Paris). 2016 Aug - Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Review.

PMID:
27476418
32.

XPR1 mutations are a rare cause of primary familial brain calcification.

Anheim M, López-Sánchez U, Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin D, Campion D, Battini JL, Sitbon M, Nicolas G.

J Neurol. 2016 Aug;263(8):1559-64. doi: 10.1007/s00415-016-8166-4. Epub 2016 May 26.

PMID:
27230854
33.

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Renaud M, Guissart C, Mallaret M, Ferdinandusse S, Cheillan D, Drouot N, Muller J, Claustres M, Tranchant C, Anheim M, Koenig M.

J Neurol. 2016 Aug;263(8):1552-8. doi: 10.1007/s00415-016-8167-3. Epub 2016 May 26.

PMID:
27230853
34.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M.

J Neurol. 2016 Jul;263(7):1314-22. doi: 10.1007/s00415-016-8112-5. Epub 2016 May 3.

PMID:
27142713
35.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P.

Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17.

PMID:
27086870
36.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M.

Eur J Hum Genet. 2016 Aug;24(8):1154-9. doi: 10.1038/ejhg.2015.259. Epub 2015 Dec 16.

37.

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH.

Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.

38.

Subthalamic stimulation or subthalamic lesion for Parkinson's disease? A case report.

Anheim M, Dowsey-Limousin P, Krack P, Chabardès S, Benabid AL, Pollak P.

Parkinsonism Relat Disord. 2015 Dec;21(12):1485-7. doi: 10.1016/j.parkreldis.2015.10.015. Epub 2015 Oct 20. No abstract available.

PMID:
26531847
39.

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G.

Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.

40.

Delayed-onset Friedreich's ataxia revisited.

Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M.

Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21.

PMID:
26388117
41.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

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.

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14.

PMID:
26288984
42.

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS.

Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17.

43.

[The brain and the muscles of genetics].

Anheim M.

Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):455-6. doi: 10.1016/j.neurol.2015.04.001. Epub 2015 May 29. French. No abstract available.

PMID:
26032485
44.

Erratum: Emerging topics in FXTAS.

Hall DA, Birch RC, Anheim M, Jønch AE, Pintado E, O'Keefe JA, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA.

J Neurodev Disord. 2015;7(1):13. doi: 10.1186/s11689-015-9108-7. Epub 2015 Apr 8.

45.

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.

Laurencin C, Anheim M, Larrieu L, Tilikete C, Koenig M, Thobois S.

J Neurol. 2015 May;262(5):1366-8. doi: 10.1007/s00415-015-7717-4. Epub 2015 Apr 7. No abstract available.

PMID:
25845762
46.

Dalfampridine in hereditary spastic paraplegia: a prospective, open study.

Béreau M, Anheim M, Chanson JB, Tio G, Echaniz-Laguna A, Depienne C, Collongues N, de Sèze J.

J Neurol. 2015 May;262(5):1285-8. doi: 10.1007/s00415-015-7707-6. Epub 2015 Mar 26.

PMID:
25808501
47.

Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply.

Koenig M, Tranchant C, Anheim M.

JAMA Neurol. 2015 Feb;72(2):239-40. doi: 10.1001/jamaneurol.2014.3921. No abstract available. Erratum in: JAMA Neurol. 2015 Apr;72(4):481.

PMID:
25664551
48.

Emerging topics in FXTAS.

Hall DA, Birch RC, Anheim M, Jønch AE, Pintado E, O'Keefe J, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA.

J Neurodev Disord. 2014;6(1):31. doi: 10.1186/1866-1955-6-31. Epub 2014 Jul 30. Review. Erratum in: J Neurodev Disord. 2015;7(1):13.

49.

The impact of rare variants in FUS in essential tremor.

Hopfner F, Stevanin G, Müller SH, Mundwiller E, Bungeroth M, Durr A, Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G, Brice A, Kuhlenbäumer G.

Mov Disord. 2015 Apr 15;30(5):721-4. doi: 10.1002/mds.26145. Epub 2015 Jan 28.

PMID:
25631824
50.

Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS).

Chanson JB, Boehm N, Samama B, Echaniz-Laguna A, Anheim M.

J Neurol. 2015 Jan;262(1):226-7. doi: 10.1007/s00415-014-7597-z. Epub 2014 Dec 9. No abstract available.

PMID:
25488474

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