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Items: 1 to 20 of 90

1.

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles.

Chaussenot A, Rouzier C, Fragaki K, Sacconi S, Ait-El-Mkadem S, Paquis-Flucklinger V, Bannwarth S.

Neurol Genet. 2018 Sep 19;4(5):e268. doi: 10.1212/NXG.0000000000000268. eCollection 2018 Oct. No abstract available.

2.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.

Hum Mol Genet. 2018 Oct 15;27(20):3488-3497. doi: 10.1093/hmg/ddy236.

PMID:
30281091
3.

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group.

J Inherit Metab Dis. 2018 Aug 28. doi: 10.1007/s10545-018-0243-7. [Epub ahead of print]

PMID:
30155607
4.

New variant of necklace fibres display peculiar lysosomal structures and mitophagy.

Rinnenthal JL, Dittmayer C, Irlbacher K, Wacker I, Schröder R, Goebel HH, Butori C, Villa L, Sacconi S, Stenzel W.

Neuromuscul Disord. 2018 Oct;28(10):846-856. doi: 10.1016/j.nmd.2018.06.010. Epub 2018 Jul 2.

PMID:
30149909
5.

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Renard D, Taieb G, Garibaldi M, Maues De Paula A, Bernard R, Lagha N, Cristofari G, Vovan C, Chaix C, Lévy N, Khau Van Kien P, Sacconi S.

Am J Med Genet A. 2018 Aug;176(8):1760-1763. doi: 10.1002/ajmg.a.38843. Epub 2018 Jul 28.

PMID:
30055030
6.
7.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

PMID:
29980640
8.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.

J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21.

PMID:
29563141
9.

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Cerqua C, Morbidoni V, Desbats MA, Doimo M, Frasson C, Sacconi S, Baldoin MC, Sartori G, Basso G, Salviati L, Trevisson E.

Biochim Biophys Acta Bioenerg. 2018 Apr;1859(4):244-252. doi: 10.1016/j.bbabio.2018.01.004. Epub 2018 Feb 3.

PMID:
29355485
10.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21.

PMID:
29162933
11.

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.

Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, Moretti F.

J Clin Invest. 2017 Apr 3;127(4):1531-1545. doi: 10.1172/JCI89401. Epub 2017 Mar 6.

12.

The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version.

Dany A, Rapin A, Lavrard B, Saoût V, Réveillère C, Bassez G, Tiffreau V, Péréon Y, Sacconi S, Eymard B, Dramé M, Jolly D, Novella JL, Hardouin JB, Boyer FC.

Muscle Nerve. 2017 Dec;56(6):1085-1091. doi: 10.1002/mus.25598. Epub 2017 Mar 21.

PMID:
28164330
13.

Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

Doix AM, Roeleveld K, Garcia J, Lahaut P, Tanant V, Fournier-Mehouas M, Desnuelle C, Colson SS, Sacconi S.

Am J Phys Med Rehabil. 2017 Apr;96(4):e56-e63. doi: 10.1097/PHM.0000000000000705.

PMID:
28129235
14.

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

Lilleker JB, Rietveld A, Pye SR, Mariampillai K, Benveniste O, Peeters MT, Miller JA, Hanna MG, Machado PM, Parton MJ, Gheorghe KR, Badrising UA, Lundberg IE, Sacconi S, Herbert MK, McHugh NJ, Lecky BR, Brierley C, Hilton-Jones D, Lamb JA, Roberts ME, Cooper RG, Saris CG, Pruijn GJ, Chinoy H, van Engelen BG; all UKMYONET contributors.

Ann Rheum Dis. 2017 May;76(5):862-868. doi: 10.1136/annrheumdis-2016-210282. Epub 2017 Jan 25.

15.

Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).

Garibaldi M, Sacconi S, Antonini G, Desnuelle C.

J Neurol. 2017 Mar;264(3):589-590. doi: 10.1007/s00415-017-8396-0. Epub 2017 Jan 24. No abstract available.

PMID:
28120044
16.

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.

Garibaldi M, Fattori F, Riva B, Labasse C, Brochier G, Ottaviani P, Sacconi S, Vizzaccaro E, Laschena F, Romero NB, Genazzani A, Bertini E, Antonini G.

Clin Genet. 2017 May;91(5):780-786. doi: 10.1111/cge.12888. Epub 2016 Nov 23.

PMID:
27882542
17.

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

Taisne N, Desnuelle C, Juntas Morales R, Ferrer Monasterio X, Sacconi S, Duval F, Sole G, Flipo RM, Lacour A, Vermersch P, Cardon T.

Muscle Nerve. 2017 Jul;56(1):167-170. doi: 10.1002/mus.25478. Epub 2016 Nov 30.

PMID:
27862019
18.

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
19.

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E.

Hum Mol Genet. 2016 Oct 1;25(19):4256-4265. doi: 10.1093/hmg/ddw257. Epub 2016 Aug 4.

PMID:
27493029
20.

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Cochaud C, Richelme C, Sacconi S, Paquis-Flucklinger V.

Muscle Nerve. 2017 Jun;55(6):919-922. doi: 10.1002/mus.25262. Epub 2017 Mar 26.

PMID:
27438479

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