Furby A - Search Results

1

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. Amati-Bonneau P, et al. Among authors: furby a. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub 2007 Dec 24. Brain. 2008. PMID: 18158317 Free article.

2

Improvement of cytomegalovirus-related Guillain-Barré syndrome after high doses of intravenous methylprednisolone pulses.

Beauvais K, Furby A. Beauvais K, et al. Among authors: furby a. Eur Neurol. 2006;56(1):41-3. doi: 10.1159/000095141. Epub 2006 Aug 17. Eur Neurol. 2006. PMID: 16921241 Free article. No abstract available.

3

Rural environment and risk factors of amyotrophic lateral sclerosis: a case-control study.

Furby A, Beauvais K, Kolev I, Rivain JG, Sébille V. Furby A, et al. J Neurol. 2010 May;257(5):792-8. doi: 10.1007/s00415-009-5419-5. Epub 2009 Dec 11. J Neurol. 2010. PMID: 20012543

4

Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series.

Furby A, Béhin A, Lefaucheur JP, Beauvais K, Marcorelles P, Mussini JM, Bassez G, Créange A, Eymard B, Pénisson-Besnier I. Furby A, et al. J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):101-4. doi: 10.1136/jnnp.2008.167577. J Neurol Neurosurg Psychiatry. 2010. PMID: 20019226

5

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.

Beauvais K, Furby A, Latour P. Beauvais K, et al. Among authors: furby a. Neuromuscul Disord. 2006 Jan;16(1):14-8. doi: 10.1016/j.nmd.2005.09.008. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16373087

6

New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus.

Beauvais K, Cavé-Riant F, De Barace C, Tardieu M, Tournier-Lasserve E, Furby A. Beauvais K, et al. Among authors: furby a. Eur Neurol. 2004;52(1):58-61. doi: 10.1159/000079546. Epub 2004 Jul 5. Eur Neurol. 2004. PMID: 15240985 No abstract available.

7

Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening.

Furby A, Vahedi K, Force M, Larrouy S, Ruchoux MM, Joutel A, Tournier-Lasserve E. Furby A, et al. J Neurol. 1998 Nov;245(11):734-40. doi: 10.1007/s004150050277. J Neurol. 1998. PMID: 9808243

8

Prognostic value of EEG in very premature newborns.

Le Bihannic A, Beauvais K, Busnel A, de Barace C, Furby A. Le Bihannic A, et al. Among authors: furby a. Arch Dis Child Fetal Neonatal Ed. 2012 Mar;97(2):F106-9. doi: 10.1136/adc.2010.204735. Epub 2011 Jun 9. Arch Dis Child Fetal Neonatal Ed. 2012. PMID: 21659622

9

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B. Furby A, et al. Neuromuscul Disord. 2014 Nov;24(11):953-9. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2. Neuromuscul Disord. 2014. PMID: 25088311

10

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Villar-Quiles RN, et al. Among authors: furby a. J Neuromuscul Dis. 2021;8(4):633-645. doi: 10.3233/JND-200577. J Neuromuscul Dis. 2021. PMID: 33749658

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