Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2,808 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Dubourg O, et al. Among authors: mayer m. Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75. Neuromolecular Med. 2006. PMID: 16775368 Review.
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D. Richard P, et al. Among authors: mayer m. Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b. Neurology. 2008. PMID: 19064877
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Thémar-Noël C, Penisson I, Mayer M, Tanguy O, Campbell KP, Kaplan JC, Tomé FM, Fardeau M. Eymard B, et al. Among authors: mayer m. Neurology. 1997 May;48(5):1227-34. doi: 10.1212/wnl.48.5.1227. Neurology. 1997. PMID: 9153448
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D. Monin ML, et al. Among authors: mayer m. Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4. Orphanet J Rare Dis. 2014. PMID: 25497157 Free PMC article.
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Viollet L, et al. Among authors: mayer m. Eur J Hum Genet. 2004 Jun;12(6):483-8. doi: 10.1038/sj.ejhg.5201177. Eur J Hum Genet. 2004. PMID: 15054395
[Congenital myasthenic syndromes due to mutations in the rapsyn gene].
Eymard B, Ioos C, Barois A, Estournet B, Mayer M, Fournier E, Yasaki E, Prioleau C, Bauché S, Gaudon K, Leroy JP, Koenig J, Richard P, Hantaï D. Eymard B, et al. Among authors: mayer m. Rev Neurol (Paris). 2004 May;160(5 Pt 2):S78-84. doi: 10.1016/s0035-3787(04)71009-7. Rev Neurol (Paris). 2004. PMID: 15269664 Review. French.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: mayer m. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: mayer m. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
2,808 results