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Items: 1 to 50 of 100

1.

Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease.

Godefroy A, Daurat M, Da Silva A, Basile I, El Cheikh K, Caillaud C, Sacconi S, Schoser B, Charbonné HV, Gary-Bobo M, Morère A, Garcia M, Maynadier M.

J Cell Mol Med. 2019 Jul 10. doi: 10.1111/jcmm.14516. [Epub ahead of print]

2.

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM.

J Med Genet. 2019 Jun 26. pii: jmedgenet-2019-106168. doi: 10.1136/jmedgenet-2019-106168. [Epub ahead of print]

PMID:
31243061
3.

Comparison of high-frequency and ultrahigh-frequency probes in chronic inflammatory demyelinating polyneuropathy.

Puma A, Azulay N, Grecu N, Suply C, Panicucci E, Cambieri C, Villa L, Raffaelli C, Sacconi S.

J Neurol. 2019 Sep;266(9):2277-2285. doi: 10.1007/s00415-019-09392-z. Epub 2019 Jun 7.

PMID:
31175432
4.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
5.

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.

J Med Genet. 2019 Apr 22. pii: jmedgenet-2018-105949. doi: 10.1136/jmedgenet-2018-105949. [Epub ahead of print]

PMID:
31010831
6.

FSHD1 and FSHD2 form a disease continuum.

Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM.

Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12.

PMID:
30979860
7.

[E-Health and therapeutic innovation].

Sacconi S, Mehl J, Lenain C, Lofaso F, Taytard J.

Med Sci (Paris). 2019 Mar;35 Hors série n° 1:42-45. doi: 10.1051/medsci/2019052. Epub 2019 Apr 3. French. No abstract available.

PMID:
30943163
8.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B.

J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21.

9.

The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Guien C, Blandin G, Lahaut P, Sanson B, Nehal K, Rabarimeriarijaona S, Bernard R, Lévy N, Sacconi S, Béroud C.

Orphanet J Rare Dis. 2018 Dec 4;13(1):218. doi: 10.1186/s13023-018-0960-x.

10.

Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy.

Banerji CRS, Panamarova M, Pruller J, Figeac N, Hebaishi H, Fidanis E, Saxena A, Contet J, Sacconi S, Severini S, Zammit PS.

Hum Mol Genet. 2019 Apr 15;28(8):1244-1259. doi: 10.1093/hmg/ddy405.

11.

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.

12.

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
13.

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 Nov;41(6):937-946. doi: 10.1007/s10545-018-0243-7. Epub 2018 Aug 28.

PMID:
30155607
14.

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
15.

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
16.
17.

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.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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
23.

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
24.

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.

25.

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
26.

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
27.

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
28.

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
29.

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
30.

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
31.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V.

Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Erratum in: Neurology. 2018 Jun 5;90(23):1084. Neurology. 2019 Aug 20;93(8):371.

32.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G.

PLoS One. 2016 Feb 5;11(2):e0148264. doi: 10.1371/journal.pone.0148264. eCollection 2016.

33.

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

Pini J, Rouleau M, Desnuelle C, Sacconi S, Bendahhou S.

Stem Cells Dev. 2016 Jan 15;25(2):151-9. doi: 10.1089/scd.2015.0258. Epub 2015 Dec 30.

PMID:
26573604
34.

Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease.

Dany A, Barbe C, Rapin A, Réveillère C, Hardouin JB, Morrone I, Wolak-Thierry A, Dramé M, Calmus A, Sacconi S, Bassez G, Tiffreau V, Richard I, Gallais B, Prigent H, Taiar R, Jolly D, Novella JL, Boyer FC.

Qual Life Res. 2015 Nov;24(11):2615-23. doi: 10.1007/s11136-015-1013-8. Epub 2015 Jul 4.

PMID:
26141500
35.

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Morel G, Rouzier C, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Augé G, Chabrol B, Pouget J, Soriani MH, Sacconi S, Paquis-Flucklinger V.

Ann Neurol. 2015 Nov;78(5):831. doi: 10.1002/ana.24464. Epub 2015 Aug 31. No abstract available.

PMID:
26095063
36.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.

Mariot V, Roche S, Hourdé C, Portilho D, Sacconi S, Puppo F, Duguez S, Rameau P, Caruso N, Delezoide AL, Desnuelle C, Bessières B, Collardeau S, Feasson L, Maisonobe T, Magdinier F, Helmbacher F, Butler-Browne G, Mouly V, Dumonceaux J.

Ann Neurol. 2015 Sep;78(3):387-400. doi: 10.1002/ana.24446. Epub 2015 Jul 3.

PMID:
26018399
37.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V.

Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30.

38.

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.

Plutino M, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Rouzier C, Augé G, Sacconi S, Pouget J, Paquis-Flucklinger V.

J Neurol Sci. 2015 Apr 15;351(1-2):196-197. doi: 10.1016/j.jns.2015.02.025. Epub 2015 Feb 20. No abstract available.

PMID:
25732802
39.

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian S.

Orphanet J Rare Dis. 2015 Jan 21;10:2. doi: 10.1186/s13023-014-0218-1.

40.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.

Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.

41.

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG.

Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9.

42.

The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.

Sacco S, Giuliano S, Sacconi S, Desnuelle C, Barhanin J, Amri EZ, Bendahhou S.

Hum Mol Genet. 2015 Jan 15;24(2):471-9. doi: 10.1093/hmg/ddu462. Epub 2014 Sep 8.

PMID:
25205110
43.

Facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Desnuelle C.

Biochim Biophys Acta. 2015 Apr;1852(4):607-14. doi: 10.1016/j.bbadis.2014.05.021. Epub 2014 May 29. Review.

44.

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.

Sacconi S, Wahbi K, Theodore G, Garcia J, Salviati L, Bouhour F, Vial C, Duboc D, Laforêt P, Desnuelle C.

Neuromuscul Disord. 2014 Jul;24(7):648-50. doi: 10.1016/j.nmd.2014.04.005. Epub 2014 Apr 24.

PMID:
24844452
45.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.

Am J Hum Genet. 2013 Oct 3;93(4):744-51. doi: 10.1016/j.ajhg.2013.08.004. Epub 2013 Sep 26.

46.

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.

Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3.

PMID:
24008051
47.

[Facioscapulohumeral muscular dystrophy type 2].

Sacconi S, Desnuelle C.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):564-72. doi: 10.1016/j.neurol.2013.02.004. Epub 2013 Aug 20. French.

PMID:
23969240
48.

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Morere J, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J.

Hum Mol Genet. 2014 Jan 1;23(1):171-81. doi: 10.1093/hmg/ddt409. Epub 2013 Aug 20.

49.

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

Humbertclaude V, Hamroun D, Picot MC, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Béroud C, Tuffery-Giraud S, Claustres M.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):583-94. doi: 10.1016/j.neurol.2013.04.004. Epub 2013 Aug 14. French.

PMID:
23954141
50.

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, Mousson de Camaret B, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, Paquis-Flucklinger V.

Eur J Hum Genet. 2014 Apr;22(4):542-50. doi: 10.1038/ejhg.2013.171. Epub 2013 Aug 7.

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