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Items: 1 to 50 of 290

1.

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.

Amador MD, Muratet F, Teyssou E, Banneau G, Danel-Brunaud V, Allart E, Antoine JC, Camdessanché JP, Anheim M, Rudolf G, Tranchant C, Fleury MC, Bernard E, Stevanin G, Millecamps S.

Neurol Genet. 2019 Nov 13;5(6):e374. doi: 10.1212/NXG.0000000000000374. eCollection 2019 Dec.

2.

Clonidine GH stimulation test to differentiate MSA from idiopathic late onset cerebellar ataxia: a prospective, controlled study.

Bonnard C, Wirth T, Gebus O, Fahrer P, Montaut S, Robelin L, Tuzin N, Tranchant C, Anheim M.

J Neurol. 2020 Mar;267(3):855-859. doi: 10.1007/s00415-020-09737-z. Epub 2020 Feb 7.

PMID:
32034477
3.

Benign hereditary chorea: From benign to serious.

Lamiral A, El Chehadeh S, Chelly J, Anheim M, Laugel V, Tranchant C.

Rev Neurol (Paris). 2020 Jan 23. pii: S0035-3787(19)30904-X. doi: 10.1016/j.neurol.2019.07.026. [Epub ahead of print] No abstract available.

PMID:
31983472
4.

Is Pallido-Pyramidal Syndrome Still a Useful Concept? Yes.

Tranchant C.

Mov Disord Clin Pract. 2019 Oct 14;7(1):25-26. doi: 10.1002/mdc3.12845. eCollection 2020 Jan. No abstract available.

PMID:
31970206
5.

Brain MRI of multiple system atrophy of cerebellar type: a prospective study with implications for diagnosis criteria.

Carré G, Dietemann JL, Gebus O, Montaut S, Lagha-Boukbiza O, Wirth T, Kremer S, Namer IJ, Anheim M, Tranchant C.

J Neurol. 2020 Jan 14. doi: 10.1007/s00415-020-09702-w. [Epub ahead of print]

PMID:
31938861
6.

Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia Parkinsonism.

Wirth T, Mariani LL, Bergant G, Baulac M, Habert MO, Drouot N, Ollivier E, Hodžić A, Rudolf G, Nitschke P, Rudolf G, Chelly J, Tranchant C, Anheim M, Roze E.

Mov Disord. 2020 Jan 10. doi: 10.1002/mds.27982. [Epub ahead of print]

PMID:
31922365
7.

Visual sensory processing is altered in myoclonus dystonia.

Tarrano C, Wattiez N, Delorme C, McGovern EM, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkoviak P, Houeto JL, Degardin A, Defebvre L, Valabrègue R, Vidailhet M, Pouget P, Roze E, Worbe Y.

Mov Disord. 2020 Jan;35(1):151-160. doi: 10.1002/mds.27857. Epub 2019 Sep 30.

PMID:
31571302
8.

CANVAS: A very late onset cerebellar ataxia, due to biallelic expansions in the RFC1 gene.

Tranchant C, Anheim M.

Rev Neurol (Paris). 2019 Oct;175(9):493-494. doi: 10.1016/j.neurol.2019.05.002. Epub 2019 Sep 13. No abstract available.

PMID:
31526553
9.

Atypical Parkinson Syndrome Hiding a Meningioma.

Bund C, Ouvrard E, Renaud M, Tranchant C, Namer IJ.

Clin Nucl Med. 2019 Dec;44(12):987-988. doi: 10.1097/RLU.0000000000002767.

PMID:
31524680
10.

Foreword.

Tranchant C.

Rev Neurol (Paris). 2019 Sep - Oct;175(7-8):415-416. doi: 10.1016/j.neurol.2019.08.001. No abstract available.

PMID:
31519226
11.

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
12.

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.

13.

Introduction and classical environmental risk factors for Parkinson.

Tranchant C.

Rev Neurol (Paris). 2019 Dec;175(10):650-651. doi: 10.1016/j.neurol.2019.04.006. Epub 2019 Jun 18. Review.

PMID:
31227125
14.

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 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18.

15.

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 Jul;64:346-348. doi: 10.1016/j.parkreldis.2019.04.019. Epub 2019 Apr 26. No abstract available.

PMID:
31053532
16.

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 Jul;64:226-234. doi: 10.1016/j.parkreldis.2019.04.012. Epub 2019 Apr 25.

PMID:
31047798
17.

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
18.

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
19.

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
20.

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
21.

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
22.

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.

23.

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.

24.

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
25.

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.

26.

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
27.

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.

28.

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.

29.

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
30.

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
31.

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.

32.

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.

33.

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
34.

[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
35.

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
36.

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
37.

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
38.

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
39.

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
40.

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
41.

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
42.

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
43.

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
44.

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
45.

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
46.

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
47.

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
48.

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
49.

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
50.

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

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