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Page 1
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Stevanin G, et al. Among authors: tranchant c. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13. Brain. 2008. PMID: 18079167
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M, Tranchant C. Anheim M, et al. Among authors: tranchant c. J Neurol. 2009 Jan;256(1):104-8. doi: 10.1007/s00415-009-0083-3. Epub 2009 Feb 9. J Neurol. 2009. PMID: 19224311
[Autosomal recessive cerebellar ataxias].
Tranchant C, Anheim M. Tranchant C, et al. Presse Med. 2009 Dec;38(12):1852-9. doi: 10.1016/j.lpm.2009.01.025. Epub 2009 May 12. Presse Med. 2009. PMID: 19442480 Review. French.
Symptomatic paroxysmal dysarthria-ataxia in demyelinating diseases.
Marcel C, Anheim M, Flamand-Rouvière C, Heran F, Masnou P, Boulay C, Mari I, Tranchant C, Roze E. Marcel C, et al. Among authors: tranchant c. J Neurol. 2010 Aug;257(8):1369-72. doi: 10.1007/s00415-010-5534-3. Epub 2010 Mar 30. J Neurol. 2010. PMID: 20352251
The autosomal recessive cerebellar ataxias.
Anheim M, Tranchant C, Koenig M. Anheim M, et al. Among authors: tranchant c. N Engl J Med. 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610. N Engl J Med. 2012. PMID: 22335741 Review. No abstract available.
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E. Méneret A, et al. Among authors: tranchant c. Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744660
Long-term outcomes of CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) in a consecutive series of 12 patients.
Taieb G, Duflos C, Renard D, Audoin B, Kaphan E, Pelletier J, Limousin N, Tranchant C, Kremer S, de Sèze J, Lefaucheur R, Maltête D, Brassat D, Clanet M, Desbordes P, Thouvenot E, Magy L, Vincent T, Faillie JL, de Champfleur N, Castelnovo G, Eimer S, Branger DF, Uro-Coste E, Labauge P. Taieb G, et al. Among authors: tranchant c. Arch Neurol. 2012 Jul;69(7):847-55. doi: 10.1001/archneurol.2012.122. Arch Neurol. 2012. PMID: 22777259
427 results