Search Results - "Bellance R"

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P.362 - Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) myopathy misdiagnosed as polymyositis.

Authors: Barp, A. Bellance, R. Rigal, O. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS205-S205. 1p.

La dysphonie et les anticorps anti-MI2 sont indépendamment associés à la dysphagie au cours des myopathies inflammatoires en Martinique.

Authors: Robert, R. Abel, A. Louis-Sidney, F. et al.

Source: Revue de Médecine Interne. 2024 Supplement 1, Vol. 45, pA61-A62. 2p.

14P X-linked myotubular myopathy: 3-year follow-up of a prospective international natural history.

Authors: Seferian, A. Annoussamy, M. Fer, F. et al.

Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.

Different HLA class II (DRBI and DQBI) alleles determine either susceptibility or resistance to NMO and multiple sclerosis among the French Afro-Caribbean population.

Authors: Deschamps, R. Paturel, L. Jeannin, S. et al.

Source: Multiple Sclerosis Journal. 01/01/2011, Vol. 17 Issue 1, p24-31. 8p. 5 Charts.

CONGENITAL MYOPATHIES (CNM): P.140Clinical changes over time in a European and North-american cohort of patients with X-linked myotubular myopathy.

Authors: Annoussamy, M. Lilien, C. Gidaro, T. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS71-S71. 1p.

P.247 - New myotubular myopathy classification.

Authors: Lilien, C. Annoussamy, M. Gidaro, T. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS169-S169. 1p.

P.250 - Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study.

Authors: Annoussamy, M. Lilien, C. Gidaro, T. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS170-S170. 1p.

P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy.

Authors: Lehtokari, V.L. Schaeffer, U. Bohm, J. et al.

Source: Neuromuscular Disorders. Oct2013, Vol. 23 Issue 9/10, p785-785. 1p.

Antisignal recognition particle antibodies-related cardiomyopathy.

Authors: Thiébaut M Terrier B Menacer S et al.

Source: Circulation. 2/5/2013, Vol. 127 Issue 5, pe434-6. 1p.

Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.

Authors: Antolin-Sanfeliz I Giguet-Valard AG Duclos S et al.

Source: Movement disorders clinical practice [Mov Disord Clin Pract] 2026 Mar; Vol. 13 (3), pp. 673-682. Date of Electronic Publication: 2025 Oct 11.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Authors: Angelini C Bar C Baudier MP et al.

Corporate Authors: Angelini C Bar C Baudier MP et al.

Source: European journal of pain (London, England) [Eur J Pain] 2025 Jan; Vol. 29 (1), pp. e4708. Date of Electronic Publication: 2024 Aug 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9801774 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2149 (Electronic) Linking ISSN: 10903801 NLM ISO Abbreviation: Eur J Pain Subsets: MEDLINE

Overall and by subtype epidemiology of idiopathic inflammatory myopathies among African descent patients with free access to high standard healthcare.

Authors: Abel A Robert R Felix A et al.

Source: Seminars in arthritis and rheumatism [Semin Arthritis Rheum] 2025 Dec; Vol. 75, pp. 152863. Date of Electronic Publication: 2025 Nov 08.

Publication Type: Journal Article

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 1306053 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-866X (Electronic) Linking ISSN: 00490172 NLM ISO Abbreviation: Semin Arthritis Rheum Subsets: MEDLINE

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.

Authors: Salort-Campana E Solé G Magot A et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 24; Vol. 19 (1), pp. 24. Date of Electronic Publication: 2024 Jan 24.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Authors: Angelini C Durand CM Fergelot P et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Nov; Vol. 38 (11), pp. 2103-2115. Date of Electronic Publication: 2023 Aug 21.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Transliterated Title: Les journées caribéennes des maladies rares et orphelines 2022.

Authors: Bellance R Antolín Sanféliz I Duclos S et al.

Source: Medecine sciences : M/S [Med Sci (Paris)] 2023 Nov; Vol. 39 Hors série n° 1, pp. 67-71. Date of Electronic Publication: 2023 Nov 17.

Publication Type: Journal Article

Journal Info: Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381 (Electronic) Linking ISSN: 07670974 NLM ISO Abbreviation: Med Sci (Paris) Subsets: MEDLINE

A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

Authors: Giguet-Valard AG Ait-El-Mkadem Saadi S Duclos S et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jul 24; Vol. 26 (15). Date of Electronic Publication: 2025 Jul 24.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

SOD1-related ALS with anticipation in a large family from Martinique.

Authors: Giguet-Valard AG Bellance R Jeannin S et al.

Source: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2021 Nov; Vol. 22 (7-8), pp. 545-551. Date of Electronic Publication: 2021 Mar 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE

Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

Authors: Zereg E Chaussenot A Morel G et al.

Source: Human mutation [Hum Mutat] 2020 Aug; Vol. 41 (8), pp. 1394-1406. Date of Electronic Publication: 2020 Jun 12.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Juvenile Dermatomyositis in Afro-Caribbean children: a cohort study in the French West Indies.

Authors: Felix A Delion F Louis-Sidney F et al.

Source: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Oct 07; Vol. 21 (1), pp. 113. Date of Electronic Publication: 2023 Oct 07.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101248897 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-0096 (Electronic) Linking ISSN: 15460096 NLM ISO Abbreviation: Pediatr Rheumatol Online J Subsets: MEDLINE