Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 172


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.


Safety of Intravenous Immunoglobulin (Tegeline®), Administered at Home in Patients with Autoimmune Disease: Results of a French Study.

Hachulla E, Le Masson G, Solé G, Hamidou M, Desnuelle C, Azulay JP, Besson G, Swiader L, Abad S, Antoine JC, Bouhour F, Créange A, Grenouillet M, Magy L, Marcel S, Paquet JM, Rouhart F, Ziegler F, Mathis S, Gauthier-Darnis M, Puget S.

Biomed Res Int. 2018 Mar 15;2018:8147251. doi: 10.1155/2018/8147251. eCollection 2018.


Phenotypic and genotypic studies of ALS cases in ALS-SMA families.

Corcia P, Vourc'h P, Blasco H, Couratier P, Dangoumau A, Bellance R, Desnuelle C, Viader F, Pautot V, Millecamps S, Bakkouche S, Salachas F, Andres CR, Meininger V, Camu W.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):432-437. doi: 10.1080/21678421.2018.1440406. Epub 2018 Mar 1.


Home versus hospital immunoglobulin treatment for autoimmune neuropathies: A cost minimization analysis.

Le Masson G, Solé G, Desnuelle C, Delmont E, Gauthier-Darnis M, Puget S, Durand-Zaleski I.

Brain Behav. 2018 Jan 26;8(2):e00923. doi: 10.1002/brb3.923. eCollection 2018 Feb.


Brain computer interface with the P300 speller: Usability for disabled people with amyotrophic lateral sclerosis.

Guy V, Soriani MH, Bruno M, Papadopoulo T, Desnuelle C, Clerc M.

Ann Phys Rehabil Med. 2018 Jan;61(1):5-11. doi: 10.1016/ Epub 2017 Oct 10.


July 2017 ENCALS statement on edaravone.

Al-Chalabi A, Andersen PM, Chandran S, Chio A, Corcia P, Couratier P, Danielsson O, de Carvalho M, Desnuelle C, Grehl T, Grosskreutz J, Holmøy T, Ingre C, Karlsborg M, Kleveland G, Koch JC, Koritnik B, KuzmaKozakiewicz M, Laaksovirta H, Ludolph A, McDermott C, Meyer T, Mitre Ropero B, Mora Pardina J, Nygren I, Petri S, Povedano Panades M, Salachas F, Shaw P, Silani V, Staaf G, Svenstrup K, Talbot K, Tysnes OB, Van Damme P, van der Kooi A, Weber M, Weydt P, Wolf J, Hardiman O, van den Berg LH.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):471-474. doi: 10.1080/21678421.2017.1369125. Epub 2017 Oct 4. Review. No abstract available.


A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

Byrne BJ, Geberhiwot T, Barshop BA, Barohn R, Hughes D, Bratkovic D, Desnuelle C, Laforet P, Mengel E, Roberts M, Haroldsen P, Reilley K, Jayaram K, Yang K, Walsh L; POM-001/002 Investigators.

Orphanet J Rare Dis. 2017 Aug 24;12(1):144. doi: 10.1186/s13023-017-0693-2.


First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.

Torrealba-Acosta G, Rodríguez-Roblero MC, Bogantes-Ledezma S, Carazo-Céspedes K, Desnuelle C.

Neuromuscul Disord. 2017 Oct;27(10):951-955. doi: 10.1016/j.nmd.2017.06.010. Epub 2017 Jun 20.


Care management in amyotrophic lateral sclerosis.

Soriani MH, Desnuelle C.

Rev Neurol (Paris). 2017 May;173(5):288-299. doi: 10.1016/j.neurol.2017.03.031. Epub 2017 Apr 29. Review.


Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trial.

Meininger V, Genge A, van den Berg LH, Robberecht W, Ludolph A, Chio A, Kim SH, Leigh PN, Kiernan MC, Shefner JM, Desnuelle C, Morrison KE, Petri S, Boswell D, Temple J, Mohindra R, Davies M, Bullman J, Rees P, Lavrov A; NOG112264 Study Group.

Lancet Neurol. 2017 Mar;16(3):208-216. doi: 10.1016/S1474-4422(16)30399-4. Epub 2017 Jan 28.


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.


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.


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.


Early diaphragm pacing in patients with amyotrophic lateral sclerosis (RespiStimALS): a randomised controlled triple-blind trial.

Gonzalez-Bermejo J, Morélot-Panzini C, Tanguy ML, Meininger V, Pradat PF, Lenglet T, Bruneteau G, Forestier NL, Couratier P, Guy N, Desnuelle C, Prigent H, Perrin C, Attali V, Fargeot C, Nierat MC, Royer C, Ménégaux F, Salachas F, Similowski T.

Lancet Neurol. 2016 Nov;15(12):1217-1227. doi: 10.1016/S1474-4422(16)30233-2. Epub 2016 Oct 11. Erratum in: Lancet Neurol. 2016 Dec;15(13):1301.


Therapeutic target of memory B cells depletion helps to tailor administration frequency of rituximab in myasthenia gravis.

Lebrun C, Bourg V, Bresch S, Cohen M, Rosenthal-Allieri MA, Desnuelle C, Ticchioni M.

J Neuroimmunol. 2016 Sep 15;298:79-81. doi: 10.1016/j.jneuroim.2016.07.009. Epub 2016 Jul 11.


[Expert centers and network in the care organization of ALS patients].

Desnuelle C.

Rev Prat. 2016 May;66(5):569. French. No abstract available.


Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?

Del Mar Amador M, Vandenberghe N, Berhoune N, Camdessanché JP, Gronier S, Delmont E, Desnuelle C, Cintas P, Pittion S, Louis S, Demeret S, Lenglet T, Meininger V, Salachas F, Pradat PF, Bruneteau G.

Neuromuscul Disord. 2016 Jun;26(6):342-6. doi: 10.1016/j.nmd.2016.03.004. Epub 2016 Mar 29.


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.


Identifying a therapeutic window in acute and subacute inflammatory sensory neuronopathies.

Antoine JC, Robert-Varvat F, Maisonobe T, Créange A, Franques J, Mathis S, Delmont E, Kuntzer T, Lefaucheur JP, Pouget J, Viala K, Desnuelle C, Echaniz-Laguna A, Rotolo F, Camdessanché JP; French Neuromuscular Network FILNEMUS.

J Neurol Sci. 2016 Feb 15;361:187-91. doi: 10.1016/j.jns.2015.12.044. Epub 2015 Dec 29.


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.


The European LEMS Registry: Baseline Demographics and Treatment Approaches.

Mantegazza R, Meisel A, Sieb JP, Le Masson G, Desnuelle C, Essing M.

Neurol Ther. 2015 Dec;4(2):105-24. doi: 10.1007/s40120-015-0034-0. Epub 2015 Nov 2.


Deciphering spreading mechanisms in amyotrophic lateral sclerosis: clinical evidence and potential molecular processes.

Pradat PF, Kabashi E, Desnuelle C.

Curr Opin Neurol. 2015 Oct;28(5):455-61. doi: 10.1097/WCO.0000000000000239. Review.


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.


Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH.

Nat Neurosci. 2015 May;18(5):631-6. doi: 10.1038/nn.4000. Epub 2015 Mar 24.


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.


Improving the detection of IgM antibodies against glycolipids complexes of GM1 and Galactocerebroside in Multifocal Motor Neuropathy using glycoarray and ELISA assays.

Delmont E, Halstead S, Galban-Horcajo F, Yao D, Desnuelle C, Willison H.

J Neuroimmunol. 2015 Jan 15;278:159-61. doi: 10.1016/j.jneuroim.2014.11.001. Epub 2014 Nov 8.


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.


Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative study.

Antoine JC, Robert-Varvat F, Maisonobe T, Créange A, Franques J, Mathis S, Delmont E, Kuntzer T, Lefaucheur JP, Pouget J, Viala K, Desnuelle C, Echaniz-Laguna A, Rotolo F, Camdessanché JP; French CIDP study group.

J Neurol. 2014 Nov;261(11):2093-100. doi: 10.1007/s00415-014-7423-7. Epub 2014 Aug 10.


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.


Revisiting the spectrum of lower motor neuron diseases with snake eyes appearance on magnetic resonance imaging.

Lebouteux MV, Franques J, Guillevin R, Delmont E, Lenglet T, Bede P, Desnuelle C, Pouget J, Pascal-Mousselard H, Pradat PF.

Eur J Neurol. 2014 Sep;21(9):1233-41. doi: 10.1111/ene.12465. Epub 2014 May 22.


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.


[Efficacy of autologous peripheral blood stem cell transplantation (auto-PBSCT) on the neuropathic manifestations in POEMS syndrome].

Gronier S, Delmont E, Legros L, Launay M, Jeandel PY, Fuzibet JG, Desnuelle C.

Rev Neurol (Paris). 2014 Jan;170(1):37-45. doi: 10.1016/j.neurol.2013.10.008. Epub 2014 Jan 8. French.


[Electrodiagnostic criteria for early diagnosis of bulbar-onset ALS: a comparison of El Escorial, revised El Escorial and Awaji algorithm].

Bresch S, Delmont E, Soriani MH, Desnuelle C.

Rev Neurol (Paris). 2014 Feb;170(2):134-9. doi: 10.1016/j.neurol.2013.10.004. Epub 2013 Nov 14. French.


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.


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.


[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.


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.


[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.


Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.

Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17.


[Subjectivity, decision and neurodegenerative diseases: reflexions on the role of the clinical psychologist in medical decision making].

Brocq H, Liarte A, Soriani MH, Desnuelle C.

Rev Neurol (Paris). 2013 Jun-Jul;169(6-7):485-9. doi: 10.1016/j.neurol.2012.10.009. Epub 2013 Feb 8. Review. French.


Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.

Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.


Evolution of quality of life, mental health, and coping strategies in amyotrophic lateral sclerosis: a pilot study.

Montel S, Albertini L, Desnuelle C, Spitz E.

J Palliat Med. 2012 Nov;15(11):1181-4. doi: 10.1089/jpm.2012.0162. Epub 2012 Oct 5.


The impact of active coping strategies on survival in ALS: the first pilot study.

Montel S, Albertini L, Desnuelle C, Spitz E.

Amyotroph Lateral Scler. 2012 Oct;13(6):599-601. doi: 10.3109/17482968.2012.711835. Epub 2012 Aug 12.


Pain assessment in Charcot-Marie-Tooth (CMT) disease.

Ribiere C, Bernardin M, Sacconi S, Delmont E, Fournier-Mehouas M, Rauscent H, Benchortane M, Staccini P, Lantéri-Minet M, Desnuelle C.

Ann Phys Rehabil Med. 2012 Apr;55(3):160-73. doi: 10.1016/ Epub 2012 Mar 6. English, French.


Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C.

J Med Genet. 2012 Jan;49(1):41-6. doi: 10.1136/jmedgenet-2011-100101. Epub 2011 Oct 7.


Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.

Humbertclaude V, Hamroun D, 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, Picot MC, Claustres M, Béroud C, Tuffery-Giraud S.

Eur J Paediatr Neurol. 2012 Mar;16(2):149-60. doi: 10.1016/j.ejpn.2011.07.001. Epub 2011 Sep 15.


A novel CRYAB mutation resulting in multisystemic disease.

Sacconi S, Féasson L, Antoine JC, Pécheux C, Bernard R, Cobo AM, Casarin A, Salviati L, Desnuelle C, Urtizberea A.

Neuromuscul Disord. 2012 Jan;22(1):66-72. doi: 10.1016/j.nmd.2011.07.004. Epub 2011 Sep 14.


Challenges in diagnosis and treatment of late-onset Pompe disease.

Desnuelle C, Salviati L.

Curr Opin Neurol. 2011 Oct;24(5):443-8. doi: 10.1097/WCO.0b013e32834a1e00. Review.


[Improvement of severe and intravenous immunoglobulin-dependent multifocal motor neuropathy with conduction block after long-term rituximab].

Michaud A, Delmont E, Jeandel PY, Desnuelle C.

Rev Neurol (Paris). 2011 Dec;167(12):916-20. doi: 10.1016/j.neurol.2011.02.042. Epub 2011 Jul 12. French.


Treatment with rituximab in patients with polyneuropathy with anti-MAG antibodies.

Delmont E, Jeandel PY, Benaïm C, Rosenthal E, Fuzibet JG, Desnuelle C.

J Neurol. 2011 Sep;258(9):1717-9. doi: 10.1007/s00415-011-5994-0. Epub 2011 Mar 25. No abstract available.

Supplemental Content

Loading ...
Support Center