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 NCBI Filters

Results by year

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

Year Number of Results
1989 1
1991 2
1992 5
1993 1
1994 8
1995 2
1996 4
1997 2
1998 2
1999 3
2000 2
2001 3
2002 2
2003 4
2004 6
2005 2
2007 4
2008 3
2009 2
2010 6
2011 3
2012 4
2013 5
2014 4
2015 3
2016 4
2017 9
2018 6
2019 6
2020 5
2021 6
2022 5
2023 4
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

123 results

Results by year

Filters applied: . Clear all
Page 1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: biancalana v. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: biancalana v. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
Clinical massively parallel sequencing for the diagnosis of myopathies.
Gorokhova S, Biancalana V, Lévy N, Laporte J, Bartoli M, Krahn M. Gorokhova S, et al. Among authors: biancalana v. Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):558-71. doi: 10.1016/j.neurol.2015.02.019. Epub 2015 May 26. Rev Neurol (Paris). 2015. PMID: 26022190 Review.
MTM1 mutations in X-linked myotubular myopathy.
Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL. Laporte J, et al. Among authors: biancalana v. Hum Mutat. 2000;15(5):393-409. doi: 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. Hum Mutat. 2000. PMID: 10790201 Review.
An innovative eye-tracker: Main features and demonstrative tests.
Bellizzi L, Bevilacqua G, Biancalana V, Carucci M, Cecchi R, Chessa P, Donniacuo A, Mandalà M, Stiaccini L. Bellizzi L, et al. Among authors: biancalana v. Rev Sci Instrum. 2022 Mar 1;93(3):035006. doi: 10.1063/5.0079779. Rev Sci Instrum. 2022. PMID: 35365022
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Lefeuvre C, Schaeffer S, Carlier RY, Fournier M, Chapon F, Biancalana V, Nicolas G, Malfatti E, Laforêt P. Lefeuvre C, et al. Among authors: biancalana v. Mol Genet Metab Rep. 2020 May 24;24:100597. doi: 10.1016/j.ymgmr.2020.100597. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32477874 Free PMC article.
Movement and health beyond care, MoviS: study protocol for a randomized clinical trial on nutrition and exercise educational programs for breast cancer survivors.
Natalucci V, Ferri Marini C, De Santi M, Annibalini G, Lucertini F, Vallorani L, Panico AR, Sisti D, Saltarelli R, Donati Zeppa S, Agostini D, Gervasi M, Baldelli G, Grassi E, Nart A, Rossato M, Biancalana V, Piccoli G, Benelli P, Villarini A, Somaini M, Catalano V, Guarino S, Pietrelli A, Monaldi S, Sarti D, Barocci S, Flori M, Rocchi MBL, Brandi G, Stocchi V, Emili R, Barbieri E. Natalucci V, et al. Among authors: biancalana v. Trials. 2023 Feb 22;24(1):134. doi: 10.1186/s13063-023-07153-y. Trials. 2023. PMID: 36814313 Free PMC article.
123 results