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

Year Number of Results
2010 2
2011 1
2012 2
2013 3
2014 1
2015 2
2016 2
2017 2
2018 2
2019 3
2020 6
2021 6
2022 3
2023 3
2024 1

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36 results

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Page 1
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: francou b. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.
Beauvais D, Labeyrie C, Cauquil C, Francou B, Eliahou L, Not A, Echaniz-Laguna A, Adam C, Slama MS, Benmalek A, Leonardi L, Rouzet F, Adams D, Algalarrondo V, Beaudonnet G. Beauvais D, et al. Among authors: francou b. J Neurol Neurosurg Psychiatry. 2023 Oct 24:jnnp-2023-332180. doi: 10.1136/jnnp-2023-332180. Online ahead of print. J Neurol Neurosurg Psychiatry. 2023. PMID: 37875336 Free article.
Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.
Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P. Lecoq AL, et al. Among authors: francou b. J Bone Miner Res. 2020 Jul;35(7):1263-1273. doi: 10.1002/jbmr.3992. Epub 2020 Mar 27. J Bone Miner Res. 2020. PMID: 32101626 Free article.
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A. Méaux MN, et al. Among authors: francou b. J Clin Endocrinol Metab. 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. J Clin Endocrinol Metab. 2023. PMID: 36321535
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia AS, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge MC, Leguern E, Lévy N, Attarian S, Latour P, Bonello-Palot N. Benquey T, et al. Among authors: francou b. Genes (Basel). 2022 Feb 9;13(2):318. doi: 10.3390/genes13020318. Genes (Basel). 2022. PMID: 35205364 Free PMC article.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Chappell K, Francou B, Habib C, Huby T, Leoni M, Cottin A, Nadal F, Adnet E, Paoli E, Oliveira C, Verstuyft C, Davit-Spraul A, Gaignard P, Lebigot E, Duclos-Vallee JC, Young J, Kamenicky P, Adams D, Echaniz-Laguna A, Gonzales E, Bouvattier C, Linglart A, Picard V, Bergoin E, Jacquemin E, Guiochon-Mantel A, Proust A, Bouligand J. Chappell K, et al. Among authors: francou b. Clin Chem. 2022 Feb 1;68(2):313-321. doi: 10.1093/clinchem/hvab220. Clin Chem. 2022. PMID: 34871369
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Hanna P, Khatri A, Choi S, Brabant S, Gild ML, Piketty ML, Francou B, Prié D, Potts JT Jr, Clifton-Bligh RJ, Linglart A, Gardella TJ, Jüppner H. Hanna P, et al. Among authors: francou b. Proc Natl Acad Sci U S A. 2023 Feb 21;120(8):e2208047120. doi: 10.1073/pnas.2208047120. Epub 2023 Feb 16. Proc Natl Acad Sci U S A. 2023. PMID: 36795755 Free PMC article.
36 results