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Items: 1 to 50 of 248

1.

A High Prevalence of Arterial Hypertension in Patients with Mitochondrial Diseases.

Chong-Nguyen C, Stalens C, Goursot Y, Bougouin W, Stojkovic T, Béhin A, Mochel F, Berber N, Eymard B, Duboc D, Laforêt P, Wahbi K.

J Inherit Metab Dis. 2019 Nov 24. doi: 10.1002/jimd.12195. [Epub ahead of print]

PMID:
31762033
2.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Laforêt P, Inoue M, Goillot E, Lefeuvre C, Cagin U, Streichenberger N, Leonard-Louis S, Brochier G, Madelaine A, Labasse C, Hedberg-Oldfors C, Krag T, Jauze L, Fabregue J, Labrune P, Milisenda J, Nadaj-Pakleza A, Sacconi S, Mingozzi F, Ronzitti G, Petit F, Schoser B, Oldfors A, Vissing J, Romero NB, Nishino I, Malfatti E.

Acta Neuropathol Commun. 2019 Oct 28;7(1):167. doi: 10.1186/s40478-019-0815-2.

3.

Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.

Papadopoulos C, Wahbi K, Behin A, Bougouin W, Stojkovic T, Leonard-Louis S, Berber N, Lombès A, Duboc D, Jardel C, Eymard B, Laforêt P.

J Inherit Metab Dis. 2019 Oct 25. doi: 10.1002/jimd.12185. [Epub ahead of print]

PMID:
31652339
4.

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.

Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.

Neurology. 2019 Nov 5;93(19):e1756-e1767. doi: 10.1212/WNL.0000000000008441. Epub 2019 Oct 16.

PMID:
31619483
5.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY.

J Neurol. 2019 Sep 25. doi: 10.1007/s00415-019-09539-y. [Epub ahead of print]

PMID:
31555977
6.

No effect of triheptanoin on exercise performance in McArdle disease.

Madsen KL, Laforêt P, Buch AE, Stemmerik MG, Ottolenghi C, Hatem SN, Raaschou-Pedersen DT, Poulsen NS, Atencio M, Luton MP, Ceccaldi A, Haller RG, Quinlivan R, Mochel F, Vissing J.

Ann Clin Transl Neurol. 2019 Oct;6(10):1949-1960. doi: 10.1002/acn3.50863. Epub 2019 Sep 14.

7.

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Brisset M, Ben Yaou R, Carlier RY, Chanut A, Nicolas G, Romero NB, Wahbi K, Decrocq C, Leturcq F, Laforêt P, Malfatti E.

Neuromuscul Disord. 2019 Sep;29(9):678-683. doi: 10.1016/j.nmd.2019.06.009. Epub 2019 Jun 19.

PMID:
31474437
8.

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.

Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G.

J Neurol. 2019 Dec;266(12):2987-2996. doi: 10.1007/s00415-019-09494-8. Epub 2019 Aug 31.

9.

Progress and challenges of gene therapy for Pompe disease.

Ronzitti G, Collaud F, Laforet P, Mingozzi F.

Ann Transl Med. 2019 Jul;7(13):287. doi: 10.21037/atm.2019.04.67. Review.

10.

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T.

Neuromuscul Disord. 2019 Jul;29(7):497-502. doi: 10.1016/j.nmd.2019.05.004. Epub 2019 May 9.

PMID:
31266720
11.

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.

Madsen KL, Preisler N, Buch AE, Stemmerik MG, Laforêt P, Vissing J.

JIMD Rep. 2019 Mar 14;46(1):79-84. doi: 10.1002/jmd2.12024. eCollection 2019 Mar.

12.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
13.

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Brisset M, Béhin A, Pottier C, Jardel C, Sharshar T, Mochel F, Mallard F, Slama A, Lombès A, Eymard B, Laforêt P.

Rev Neurol (Paris). 2019 Oct;175(9):564-567. doi: 10.1016/j.neurol.2018.12.004. Epub 2019 May 1.

PMID:
31053354
14.

Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.

Fayssoil A, Nguyen LS, Ogna A, Stojkovic T, Meng P, Mompoint D, Carlier R, Prigent H, Clair B, Behin A, Laforet P, Bassez G, Crenn P, Orlikowski D, Annane D, Eymard B, Lofaso F.

PLoS One. 2019 Apr 24;14(4):e0214288. doi: 10.1371/journal.pone.0214288. eCollection 2019.

15.

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
16.

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Tobaly D, Laforêt P, Perry A, Habes D, Labrune P, Decostre V, Masingue M, Petit F, Barp A, Bello L, Carlier P, Carlier RY.

Muscle Nerve. 2019 Jul;60(1):72-79. doi: 10.1002/mus.26483. Epub 2019 Apr 24.

PMID:
30972778
17.

[Late-onset Pompe disease: the lessons drawn from the use of Myosime® - Clinical use of innovative, repurposed or off-label therapies: a real life experience (1)].

Laforêt P.

Med Sci (Paris). 2019 Mar;35 Hors série n° 1:18-21. doi: 10.1051/medsci/2019021. Epub 2019 Apr 3. French. No abstract available.

PMID:
30943155
18.

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Echaniz-Laguna A, Nadjar Y, Béhin A, Biancalana V, Piraud M, Malfatti E, Laforêt P.

J Inherit Metab Dis. 2019 Sep;42(5):803-808. doi: 10.1002/jimd.12087. Epub 2019 Apr 8.

PMID:
30887539
19.

Congenital myopathies are mainly associated with a mild cardiac phenotype.

Petri H, Wahbi K, Witting N, Køber L, Bundgaard H, Kamoun E, Vellieux G, Stojkovic T, Béhin A, Laforet P, Vissing J.

J Neurol. 2019 Jun;266(6):1367-1375. doi: 10.1007/s00415-019-09267-3. Epub 2019 Mar 14.

PMID:
30874888
20.

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.

Barp A, Bellance R, Malfatti E, Rigal O, Acquaviva-Bourdain C, Laforet P.

J Clin Rheumatol. 2019 Feb 19. doi: 10.1097/RHU.0000000000001000. [Epub ahead of print] No abstract available.

PMID:
30801335
21.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.

Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.

22.

Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report.

Fayssoil A, Stojkovic T, Ogna A, Laforet P, Prigent H, Lofaso F, Orlikowski D, Bassez G, Eymard B, Behin A.

Medicine (Baltimore). 2019 Jan;98(4):e13887. doi: 10.1097/MD.0000000000013887.

23.

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, Shebert RT, Harper A, Fequiere P, Meriggioli M, Toro C, Drachman D, Allenbach Y, Benveniste O, Béhin A, Eymard B, Lafôret P, Stojkovic T, Mammen AL, Bönnemann CG.

Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan.

24.

Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood.

Fayssoil A, Chaffaut C, Ogna A, Stojkovic T, Lamothe L, Mompoint D, Meng P, Prigent H, Clair B, Behin A, Laforet P, Bassez G, Carlier R, Orlikowski D, Amthor H, Quijano Roy S, Crenn P, Chevret S, Eymard B, Lofaso F, Annane D.

J Neuromuscul Dis. 2019;6(1):55-64. doi: 10.3233/JND-180326.

PMID:
30562904
25.

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study.

Querin G, El Mendili MM, Lenglet T, Behin A, Stojkovic T, Salachas F, Devos D, Le Forestier N, Del Mar Amador M, Debs R, Lacomblez L, Meininger V, Bruneteau G, Cohen-Adad J, Lehéricy S, Laforêt P, Blancho S, Benali H, Catala M, Li M, Marchand-Pauvert V, Hogrel JY, Bede P, Pradat PF.

Neuroimage Clin. 2019;21:101618. doi: 10.1016/j.nicl.2018.101618. Epub 2018 Nov 28.

26.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
27.

Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients.

Esnault J, Missaoui B, Bendaya S, Mane M, Eymard B, Laforet P, Stojkovic T, Behin A, Thoumie P.

Neuromuscul Disord. 2018 Dec;28(12):996-1002. doi: 10.1016/j.nmd.2018.09.007. Epub 2018 Sep 27.

PMID:
30415787
28.

High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy.

Sochala M, Porcher R, Stojkovic T, Bécane HM, Béhin A, Laforêt P, Bassez G, Leonard-Louis S, Eymard B, Furling D, Duboc D, Wahbi K.

Circulation. 2018 Sep 11;138(11):1169-1171. doi: 10.1161/CIRCULATIONAHA.118.035035. No abstract available.

PMID:
30354391
29.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Kaphan E, Bou Ali H, Gastaldi M, Acquaviva C, Vianey-Saban C, Rouzier C, Fragaki K, Bannwarth S, Paquis-Flucklinger V, Romero N, Behin A, Lombès A, Jardel C, Rigal O, Laforêt P.

Rev Neurol (Paris). 2018 Dec;174(10):731-735. doi: 10.1016/j.neurol.2018.03.014. Epub 2018 Oct 11.

PMID:
30318261
30.

The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy.

Querin G, Lenglet T, Debs R, Stojkovic T, Behin A, Salachas F, Le Forestier N, Amador MDM, Lacomblez L, Meininger V, Bruneteau G, Laforêt P, Blancho S, Marchand-Pauvert V, Bede P, Hogrel JY, Pradat PF.

Clin Neurophysiol. 2018 Nov;129(11):2333-2340. doi: 10.1016/j.clinph.2018.08.025. Epub 2018 Sep 13.

PMID:
30248623
31.

Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats.

Lofaso F, Prigent H, Annane D, Orlikowski D, Wahbi K, Laforêt P, Eymard B, Stojkovic T, Béhin A, Boussaid G.

Neuromuscul Disord. 2018 Oct;28(10):894-895. doi: 10.1016/j.nmd.2018.07.012. Epub 2018 Aug 7. No abstract available.

PMID:
30217486
32.

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
33.

Renal artery fibromuscular dysplasia in Pompe disease: A case report.

Pappa E, Papadopoulos C, Grimbert P, Laforêt P, Bassez G.

Mol Genet Metab Rep. 2018 Jul 26;16:64-65. doi: 10.1016/j.ymgmr.2018.07.002. eCollection 2018 Sep.

34.

Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Touat M, Michaud M, Alamowitch S, Maisonobe T, Acquaviva-Bourdain C, Laforêt P.

Rev Neurol (Paris). 2018 Dec;174(10):747-750. doi: 10.1016/j.neurol.2017.12.004. Epub 2018 Jul 30. No abstract available.

PMID:
30072122
35.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

Carvalho AAS, Lacene E, Brochier G, Labasse C, Madelaine A, Silva VGD, Corazzini R, Papadopoulos K, Behin A, Laforêt P, Stojkovic T, Eymard B, Fardeau M, Romero N.

Genet Test Mol Biomarkers. 2018 Jun;22(6):374-383. doi: 10.1089/gtmb.2018.0004.

PMID:
29924655
36.

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis.

Landon-Cardinal O, Friedman D, Guiguet M, Laforêt P, Heming N, Salort-Campana E, Jouen F, Allenbach Y, Boyer O, Chatenoud L, Eymard B, Sharshar T, Benveniste O.

J Neuromuscul Dis. 2018;5(2):241-249. doi: 10.3233/JND-180300.

PMID:
29865089
37.

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY.

Eur Radiol. 2018 Dec;28(12):5293-5303. doi: 10.1007/s00330-018-5472-5. Epub 2018 May 25.

PMID:
29802573
38.

Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies).

Fayssoil A, Nguyen LS, Ogna A, Meng P, Nardi O, Laforet P, Clair B, Prigent H, Lofaso F, Leturcq F, Yaou RB, Annane D, Orlikowski D.

Am J Cardiol. 2018 Jul 15;122(2):353-355. doi: 10.1016/j.amjcard.2018.04.001. Epub 2018 Apr 16.

PMID:
29793889
39.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.

Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29.

PMID:
29635721
40.

The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization.

Barp A, Malfatti E, Metay C, Jobic V, Carlier RY, Laforet P.

Rev Neurol (Paris). 2018 Dec;174(10):752-755. doi: 10.1016/j.neurol.2017.08.004. Epub 2018 Apr 5. No abstract available.

PMID:
29628183
41.

Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study.

Boussaïd G, Prigent H, Laforet P, Raphaël JC, Annane D, Orlikowski D, Lofaso F.

Thorax. 2018 Nov;73(11):1075-1078. doi: 10.1136/thoraxjnl-2017-210610. Epub 2018 Mar 23.

PMID:
29572271
42.

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

Wahbi K, Porcher R, Laforêt P, Fayssoil A, Bécane HM, Lazarus A, Sochala M, Stojkovic T, Béhin A, Leonard-Louis S, Arnaud P, Furling D, Probst V, Babuty D, Pellieux S, Clementy N, Bassez G, Péréon Y, Eymard B, Duboc D.

JAMA Neurol. 2018 May 1;75(5):573-581. doi: 10.1001/jamaneurol.2017.4778.

43.

Genotype and other determinants of respiratory function in myotonic dystrophy type 1.

Boussaïd G, Wahbi K, Laforet P, Eymard B, Stojkovic T, Behin A, Djillali A, Orlikowski D, Prigent H, Lofaso F.

Neuromuscul Disord. 2018 Mar;28(3):222-228. doi: 10.1016/j.nmd.2017.12.011. Epub 2017 Dec 26.

PMID:
29398295
44.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

Vidal P, Pagliarani S, Colella P, Costa Verdera H, Jauze L, Gjorgjieva M, Puzzo F, Marmier S, Collaud F, Simon Sola M, Charles S, Lucchiari S, van Wittenberghe L, Vignaud A, Gjata B, Richard I, Laforet P, Malfatti E, Mithieux G, Rajas F, Comi GP, Ronzitti G, Mingozzi F.

Mol Ther. 2018 Mar 7;26(3):890-901. doi: 10.1016/j.ymthe.2017.12.019. Epub 2017 Dec 28.

45.

The role of electrodiagnosis with long exercise test in mcardle disease.

Semplicini C, Hézode-Arzel M, Laforêt P, Béhin A, Leonard-Louis S, Hogrel JY, Petit F, Eymard B, Stojkovic T, Fournier E.

Muscle Nerve. 2018 Jan 19. doi: 10.1002/mus.26074. [Epub ahead of print]

PMID:
29350794
46.

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

Fayssoil A, Ben Yaou R, Ogna A, Chaffaut C, Leturcq F, Nardi O, Wahbi K, Duboc D, Lofaso F, Prigent H, Clair B, Crenn P, Nicolas G, Laforet P, Behin A, Chevret S, Orlikowski D, Annane D.

PLoS One. 2018 Jan 5;13(1):e0190518. doi: 10.1371/journal.pone.0190518. eCollection 2018.

47.

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders.

Fayssoil A, Behin A, Ogna A, Mompoint D, Amthor H, Clair B, Laforet P, Mansart A, Prigent H, Orlikowski D, Stojkovic T, Vinit S, Carlier R, Eymard B, Lofaso F, Annane D.

J Neuromuscul Dis. 2018;5(1):1-10. doi: 10.3233/JND-170276. Review.

48.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

49.

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Stojkovic T, Chanut A, Laforêt P, Madelaine A, Petit F, Romero NB, Malfatti E.

Muscle Nerve. 2018 May;57(5):E122-E124. doi: 10.1002/mus.26030. Epub 2017 Dec 22. No abstract available.

PMID:
29205400
50.

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

Puzzo F, Colella P, Biferi MG, Bali D, Paulk NK, Vidal P, Collaud F, Simon-Sola M, Charles S, Hardet R, Leborgne C, Meliani A, Cohen-Tannoudji M, Astord S, Gjata B, Sellier P, van Wittenberghe L, Vignaud A, Boisgerault F, Barkats M, Laforet P, Kay MA, Koeberl DD, Ronzitti G, Mingozzi F.

Sci Transl Med. 2017 Nov 29;9(418). pii: eaam6375. doi: 10.1126/scitranslmed.aam6375.

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