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Page 1
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. Gérard L, et al. Among authors: pegat a. Eur J Hum Genet. 2024 Dec 26. doi: 10.1038/s41431-024-01781-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39725690
Spinal muscular atrophy is also a disorder of spermatogenesis.
Magot A, Reignier A, Binois O, Bedat-Millet AL, Davion JB, Debergé L, Ghorab K, Guyant L, Laheranne É, Laforet P, Lefeuvre C, Mallaret M, Michaud M, Omar C, Nadaj-Pakleza A, Nicolas G, Noury JB, Pegat A, Péré M, Salort-Campana E, Sole G, Spinazzi M, Tard C, Vuillerot C, Péréon Y. Magot A, et al. Among authors: pegat a. Orphanet J Rare Dis. 2024 Dec 20;19(1):476. doi: 10.1186/s13023-024-03494-2. Orphanet J Rare Dis. 2024. PMID: 39707482 Free PMC article.
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. Bahout M, et al. Among authors: pegat a. J Neurol Neurosurg Psychiatry. 2024 Oct 24:jnnp-2024-334263. doi: 10.1136/jnnp-2024-334263. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39448255 Free article.
Diagnostic and prognostic biomarkers in immune checkpoint inhibitor-related encephalitis: a retrospective cohort study.
Farina A, Villagrán-García M, Fourier A, Pinto AL, Chorfa F, Timestit N, Alberto T, Aupy J, Benaiteau M, Birzu C, Campetella L, Cotton F, Dalle S, Delaruelle CF, Dumez P, Germi R, Le Maréchal M, Maillet D, Marignier R, Pegat A, Psimaras D, Rafiq M, Picard G, Desestret V, Quadrio I, Honnorat J, Joubert B. Farina A, et al. Among authors: pegat a. Lancet Reg Health Eur. 2024 Jul 25;44:101011. doi: 10.1016/j.lanepe.2024.101011. eCollection 2024 Sep. Lancet Reg Health Eur. 2024. PMID: 39170102 Free PMC article.
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P, Theuriet J, Nadaj-Pakleza A, Magot A, Lannes B, Marcorelles P, Behin A, Masingue M, Caillon F, Malek Y, Fenouil T, Bas J, Menassa R, Michel-Calemard L, Streichenberger N, Simon JP, Bouhour F, Evangelista T, Métay C, Pegat A, Stojkovic T, Fernández-Eulate G. Panos-Basterra P, et al. Among authors: pegat a. Neuromuscul Disord. 2024 Sep;42:43-52. doi: 10.1016/j.nmd.2024.07.008. Epub 2024 Jul 24. Neuromuscul Disord. 2024. PMID: 39142003
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: pegat a. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
42 results