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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1956 2
1959 2
1960 2
1961 1
1963 3
1964 4
1965 4
1966 5
1967 3
1968 1
1969 7
1970 2
1971 3
1972 6
1973 6
1974 1
1975 5
1976 5
1977 3
1978 6
1979 4
1980 5
1981 3
1982 7
1983 7
1984 6
1985 6
1986 6
1987 8
1988 10
1989 8
1990 9
1991 14
1992 10
1993 11
1994 14
1995 18
1996 20
1997 23
1998 22
1999 17
2000 16
2001 11
2002 17
2003 12
2004 17
2005 8
2006 9
2007 17
2008 13
2009 16
2010 15
2011 21
2012 16
2013 27
2014 13
2015 21
2016 12
2017 13
2018 6
2019 4
2020 3
2021 0
Text availability
Article attribute
Article type
Publication date

Search Results

547 results
Results by year
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Page 1
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Schartner V, et al. Among authors: fardeau m. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23. Acta Neuropathol. 2017. PMID: 28012042
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: fardeau m. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. Lornage X, et al. Among authors: fardeau m. Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30. Acta Neuropathol. 2019. PMID: 30701273 Free PMC article.
Calpainopathy-a survey of mutations and polymorphisms.
Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS. Richard I, et al. Among authors: fardeau m. Am J Hum Genet. 1999 Jun;64(6):1524-40. doi: 10.1086/302426. Am J Hum Genet. 1999. PMID: 10330340 Free PMC article.
Myofibrillar myopathies.
Claeys KG, Fardeau M. Claeys KG, et al. Among authors: fardeau m. Handb Clin Neurol. 2013;113:1337-42. doi: 10.1016/B978-0-444-59565-2.00005-8. Handb Clin Neurol. 2013. PMID: 23622358 Review.
Neuromuscular disease: muscle.
Fardeau M. Fardeau M. Curr Opin Neurol. 2013 Oct;26(5):516-8. doi: 10.1097/WCO.0b013e328365048d. Curr Opin Neurol. 2013. PMID: 23995280 No abstract available.
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X, Schartner V, Balbueno I, Biancalana V, Willis T, Echaniz-Laguna A, Scheidecker S, Quinlivan R, Fardeau M, Malfatti E, Lannes B, Sewry C, Romero NB, Laporte J, Böhm J. Lornage X, et al. Among authors: fardeau m. Acta Neuropathol Commun. 2019 Aug 27;7(1):138. doi: 10.1186/s40478-019-0781-8. Acta Neuropathol Commun. 2019. PMID: 31455395 Free PMC article.
Oculopharyngeal muscular dystrophy.
Brais B, Rouleau GA, Bouchard JP, Fardeau M, Tomé FM. Brais B, et al. Among authors: fardeau m. Semin Neurol. 1999;19(1):59-66. doi: 10.1055/s-2008-1040826. Semin Neurol. 1999. PMID: 10711989 Review.
Diagnostic workup for neuromuscular diseases.
Fardeau M, Desguerre I. Fardeau M, et al. Handb Clin Neurol. 2013;113:1291-7. doi: 10.1016/B978-0-444-59565-2.00001-0. Handb Clin Neurol. 2013. PMID: 23622354 Review.
547 results
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