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Items: 1 to 50 of 280

1.

Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

Méneret A, Roze E, Maranci JB, Dodet P, Doummar D, Riant F, Tranchant C, Fraix V, Anheim M, Ekmen A, McGovern E, Vidailhet M, Arnulf I, Leu-Semenescu S.

J Clin Sleep Med. 2019 Jul 15;15(7):1021-1029. doi: 10.5664/jcsm.7886.

PMID:
31383240
2.

Transforming child and youth mental health care: ACCESS Open Minds New Brunswick in the rural Francophone region of the Acadian Peninsula.

Dubé A, Iancu P, Tranchant CC, Doucet D, Joachin A, Malchow J, Robichaud S, Haché M, Godin I, Bourdon L, Bourque J, Iyer SN, Malla A, Beaton AM.

Early Interv Psychiatry. 2019 Jun;13 Suppl 1:29-34. doi: 10.1111/eip.12815.

PMID:
31243903
3.

Introduction and classical environmental risk factors for Parkinson.

Tranchant C.

Rev Neurol (Paris). 2019 Jun 18. pii: S0035-3787(19)30587-9. doi: 10.1016/j.neurol.2019.04.006. [Epub ahead of print] Review.

PMID:
31227125
4.

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.

Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H.

Hum Mutat. 2019 May 22. doi: 10.1002/humu.23799. [Epub ahead of print]

PMID:
31116475
5.

Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.

Delamarre A, Chelly J, Guehl D, Drouot N, Tranchant C, Anheim M, Burbaud P.

Parkinsonism Relat Disord. 2019 Apr 26. pii: S1353-8020(19)30214-7. doi: 10.1016/j.parkreldis.2019.04.019. [Epub ahead of print] No abstract available.

PMID:
31053532
6.

Descriptive analysis of the French NS-Park registry: Towards a nation-wide Parkinson's disease cohort?

Mariani LL, Doulazmi M, Chaigneau V, Brefel-Courbon C, Carrière N, Danaila T, Defebvre L, Defer G, Dellapina E, Doé de Maindreville A, Geny C, Maltête D, Meissner WG, Rascol O, Thobois S, Torny F, Tranchant C, Vidailhet M, Corvol JC, Degos B; NS-Park/F-CRIN Network study group.

Parkinsonism Relat Disord. 2019 Apr 25. pii: S1353-8020(19)30207-X. doi: 10.1016/j.parkreldis.2019.04.012. [Epub ahead of print]

PMID:
31047798
7.

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Méneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltête D, Rovelet-Lecrux A, Boland A, Deleuze JF; French PFBC study group , Frebourg T, Hannequin D, Campion D, Nicolas G.

Brain. 2019 Jun 1;142(6):1573-1586. doi: 10.1093/brain/awz095.

PMID:
31009047
8.

Analysis of Triphenylmethane Dye Residues and their Leuco-Forms in Frozen Fish by LC-MS/MS, Fish Microbial Quality, and Effect of Immersion in Whole Milk on Dye Removal.

Gammoh S, Alu'datt MH, Alhamad MN, Rababah T, Ammari ZA, Tranchant CC, Talafha W, AlRosan M.

J Food Sci. 2019 Feb;84(2):370-380. doi: 10.1111/1750-3841.14434. Epub 2019 Jan 14.

PMID:
30640981
9.

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
10.

Foreword.

Azulay JP, Durif F, Vidailhet M, Tranchant C.

Rev Neurol (Paris). 2018 Nov;174(9):579-580. doi: 10.1016/j.neurol.2018.10.001. No abstract available.

PMID:
30343834
11.

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
12.

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.

13.

Coencapsulation of Polyphenols and Anthocyanins from Blueberry Pomace by Double Emulsion Stabilized by Whey Proteins: Effect of Homogenization Parameters.

Bamba BSB, Shi J, Tranchant CC, Xue SJ, Forney CF, Lim LT, Xu W, Xu G.

Molecules. 2018 Oct 2;23(10). pii: E2525. doi: 10.3390/molecules23102525.

14.

Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy.

Lopez-Cuina M, Fernagut PO, Canron MH, Vital A, Lannes B, De Paula AM, Streichenberger N, Guehl D, Damier P, Eusebio A, Houeto JL, Tison F, Tranchant C, Viallet F, Witjas T, Thobois S, Meissner WG.

Neurobiol Dis. 2018 Oct;118:155-160. doi: 10.1016/j.nbd.2018.07.016. Epub 2018 Jul 17.

PMID:
30026036
15.

Influence of Extraction Conditions on Ultrasound-Assisted Recovery of Bioactive Phenolics from Blueberry Pomace and Their Antioxidant Activity.

Bamba BSB, Shi J, Tranchant CC, Xue SJ, Forney CF, Lim LT.

Molecules. 2018 Jul 11;23(7). pii: E1685. doi: 10.3390/molecules23071685.

16.

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
17.

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
18.

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.

19.

When and how to use next generation sequencing? Which role for the clinician?

Tranchant C.

Rev Neurol (Paris). 2018 May;174(5):275-277. doi: 10.1016/j.neurol.2018.01.371. No abstract available.

PMID:
29778139
20.

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
21.

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.

22.

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.

23.

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
24.

[Movement disorders: An update].

Béreau M, Tranchant C.

Rev Med Interne. 2018 Aug;39(8):641-649. doi: 10.1016/j.revmed.2017.09.001. Epub 2017 Oct 16. Review. French.

PMID:
29050651
25.

Occurrence, types, properties and interactions of phenolic compounds with other food constituents in oil-bearing plants.

Alu'datt MH, Rababah T, Alhamad MN, Al-Rabadi GJ, Tranchant CC, Almajwal A, Kubow S, Alli I.

Crit Rev Food Sci Nutr. 2018;58(18):3209-3218. doi: 10.1080/10408398.2017.1391169. Epub 2017 Nov 27. Review.

PMID:
29027830
26.

Profiles of free and bound phenolics extracted from Citrus fruits and their roles in biological systems: content, and antioxidant, anti-diabetic and anti-hypertensive properties.

Alu'datt MH, Rababah T, Alhamad MN, Al-Mahasneh MA, Ereifej K, Al-Karaki G, Al-Duais M, Andrade JE, Tranchant CC, Kubow S, Ghozlan KA.

Food Funct. 2017 Sep 20;8(9):3187-3197. doi: 10.1039/c7fo00212b.

PMID:
28805834
27.

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment.

Hamidou B, Marin B, Lautrette G, Nicol M, Camu W, Corcia P, Arnes-Bes MC, Tranchant C, Clavelou P, Hannequin D, Maurice G, Beauvais K, Antoine JC, Danel-Brunaud V, Viader F, Preux PM, Couratier P.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):519-527. doi: 10.1080/21678421.2017.1353098. Epub 2017 Aug 1.

PMID:
28762856
28.

Ability of pulmonary function decline to predict death in amyotrophic lateral sclerosis patients.

Enache I, Pistea C, Fleury M, Schaeffer M, Oswald-Mammosser M, Echaniz-Laguna A, Tranchant C, Meyer N, Charloux A.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):511-518. doi: 10.1080/21678421.2017.1353097. Epub 2017 Jul 20.

PMID:
28728441
29.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.

Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.

PMID:
28685322
30.

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
31.

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
32.

Evidence of presynaptic dopaminergic dysfunction in acute methanol intoxication.

Doé de Maindreville A, Bakchine S, Papathanassiou D, Orquevaux P, Tranchant C, Roze E.

Rev Neurol (Paris). 2017 Jun;173(6):420-422. doi: 10.1016/j.neurol.2017.03.014. Epub 2017 Apr 26. No abstract available.

PMID:
28456384
33.

A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's disease.

Verny C, Bachoud-Lévi AC, Durr A, Goizet C, Azulay JP, Simonin C, Tranchant C, Calvas F, Krystkowiak P, Charles P, Youssov K, Scherer C, Prundean A, Olivier A, Reynier P, Saudou F, Maison P, Allain P, von Studnitz E, Bonneau D; CYST-HD Study Group.

Mov Disord. 2017 Jun;32(6):932-936. doi: 10.1002/mds.27010. Epub 2017 Apr 24.

PMID:
28436572
34.

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
35.

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
36.

Éditorial.

Azulay JP, Tranchant C.

Presse Med. 2017 Mar;46(2 Pt 1):174. doi: 10.1016/j.lpm.2017.02.001. French. No abstract available.

PMID:
28325375
37.

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
38.

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
39.

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
40.

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
41.

[Other causes of parkinsonism].

Tranchant C.

Presse Med. 2017 Mar;46(2 Pt 1):210-217. doi: 10.1016/j.lpm.2016.11.008. Epub 2017 Jan 23. Review. French.

PMID:
28126506
42.

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.

43.

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Rudolf G, Suominen T, Penttilä S, Hackman P, Evilä A, Lannes B, Echaniz-Laguna A, Bierry G, Tranchant C, Udd B.

J Neuromuscul Dis. 2016 May 27;3(2):275-281.

PMID:
27854214
44.

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
45.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression.

de Diego-Balaguer R, Schramm C, Rebeix I, Dupoux E, Durr A, Brice A, Charles P, Cleret de Langavant L, Youssov K, Verny C, Damotte V, Azulay JP, Goizet C, Simonin C, Tranchant C, Maison P, Rialland A, Schmitz D, Jacquemot C, Fontaine B, Bachoud-Lévi AC; French Speaking Huntington Group.

PLoS One. 2016 Sep 22;11(9):e0161106. doi: 10.1371/journal.pone.0161106. eCollection 2016.

46.

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
47.

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
48.

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
49.

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
50.

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

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