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Items: 1 to 50 of 751

1.

Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study.

Legrand L, Diallo A, Monin ML, Ewenczyk C, Charles P, Isnard R, Vicaut E, Montalescot G, Durr A, Pousset F.

Am J Cardiovasc Drugs. 2019 Oct 25. doi: 10.1007/s40256-019-00375-z. [Epub ahead of print]

PMID:
31650522
2.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C.

Genet Med. 2019 Oct 3. doi: 10.1038/s41436-019-0657-0. [Epub ahead of print]

PMID:
31578471
3.

Comprehensive Landscape of Active Deubiquitinating Enzymes Profiled by Advanced Chemoproteomics.

Pinto-Fernández A, Davis S, Schofield AB, Scott HC, Zhang P, Salah E, Mathea S, Charles PD, Damianou A, Bond G, Fischer R, Kessler BM.

Front Chem. 2019 Aug 29;7:592. doi: 10.3389/fchem.2019.00592. eCollection 2019.

4.

Polyamines Control eIF5A Hypusination, TFEB Translation, and Autophagy to Reverse B Cell Senescence.

Zhang H, Alsaleh G, Feltham J, Sun Y, Napolitano G, Riffelmacher T, Charles P, Frau L, Hublitz P, Yu Z, Mohammed S, Ballabio A, Balabanov S, Mellor J, Simon AK.

Mol Cell. 2019 Oct 3;76(1):110-125.e9. doi: 10.1016/j.molcel.2019.08.005. Epub 2019 Aug 29.

5.

Divergent allocation of sperm and the seminal proteome along a competition gradient in Drosophila melanogaster.

Hopkins BR, Sepil I, Thézénas ML, Craig JF, Miller T, Charles PD, Fischer R, Kessler BM, Bretman A, Pizzari T, Wigby S.

Proc Natl Acad Sci U S A. 2019 Sep 3;116(36):17925-17933. doi: 10.1073/pnas.1906149116. Epub 2019 Aug 20.

6.

Corporeal Compression at the Onset of Septic shock (COCOONs): a compression method to reduce fluid balance of septic shock patients.

Dargent A, Large A, Soudry-Faure A, Doise JM, Abdulmalak C, Jonval L, Andreu P, Roudaut JB, Prin S, Charles PE, Payen D, Quenot JP; COCOONs study group.

Sci Rep. 2019 Aug 9;9(1):11566. doi: 10.1038/s41598-019-47939-2.

7.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N.

Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25.

PMID:
31353024
8.

Adhering to the procalcitonin algorithm allows antibiotic therapy to be shortened in patients with ventilator-associated pneumonia.

Beye F, Vigneron C, Dargent A, Prin S, Andreu P, Large A, Quenot JP, Bador J, Bruyere R, Charles PE.

J Crit Care. 2019 Oct;53:125-131. doi: 10.1016/j.jcrc.2019.05.022. Epub 2019 May 31.

PMID:
31228763
9.

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Diallo A, Jacobi H, Cook A, Giunti P, Parkinson MH, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Castaldo A, Rakowicz M, Rola R, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Nachbauer W, Pandolfo M, Schulz JB, Bauer P, Jun-Suk K, Klockgether T, Tezenas du Montcel S.

Mov Disord. 2019 Aug;34(8):1220-1227. doi: 10.1002/mds.27739. Epub 2019 Jun 18.

PMID:
31211461
10.

Evaluation of a prescription support-tool for chronic management of oral antithrombotic combinations in adults using clinical vignettes: protocol of a randomised controlled trial.

Zerah L, Bonnet-Zamponi D, Frappé P, Hauguel-Moreau M, De Rycke Y, Magnier AM, Pautas E, Charles P, Collet JP, Dechartres A, Tubach F.

BMJ Open. 2019 Jun 9;9(6):e025544. doi: 10.1136/bmjopen-2018-025544.

11.

Hospital-Level Cardiovascular Management Practices in Kerala, India.

Yoo SGK, Davies D, Mohanan PP, Baldridge AS, Charles PM, Schumacher M, Bhalla S, Devarajan R, Hirschhorn LR, Prabhakaran D, Huffman MD.

Circ Cardiovasc Qual Outcomes. 2019 May;12(5):e005251. doi: 10.1161/CIRCOUTCOMES.118.005251.

PMID:
31092020
12.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

PMID:
31079897
13.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.

Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.

PMID:
31068484
14.

Perfluoroalkyl substances (PFASs) in the marine environment: Spatial distribution and temporal profile shifts in shellfish from French coasts.

Catherine M, Nadège B, Charles P, Yann A.

Chemosphere. 2019 Aug;228:640-648. doi: 10.1016/j.chemosphere.2019.04.205. Epub 2019 Apr 29.

PMID:
31063911
15.

Large paraspinal abscess as a complication of infliximab therapy in Crohn's disease.

Nithianandan N, Loftus MJ, Johnson PDR, Charles PGP.

BMJ Case Rep. 2019 Apr 29;12(4). pii: e227665. doi: 10.1136/bcr-2018-227665.

PMID:
31036734
16.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Saint-Val L, Courtin T, Charles P, Verny C, Catala M, Schiffmann R, Boespflug-Tanguy O, Mochel F.

AJNR Am J Neuroradiol. 2019 May;40(5):788-791. doi: 10.3174/ajnr.A6036. Epub 2019 Apr 25.

PMID:
31023660
17.

Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature.

Lefrère B, Stepanian A, Charles P, Foulon-Pinto G, Béranger N, Alhenc-Gelas M, Drouet L, Siguret V.

Thromb Res. 2019 Jun;178:75-78. doi: 10.1016/j.thromres.2019.04.010. Epub 2019 Apr 9. No abstract available.

PMID:
30991241
18.

Influenza infection and bacteremic pneumococcal pneumonia.

Blot M, Bruyère R, Chavanet P, Dalle F, Piroth L, Quenot JP, Charles PE.

Med Mal Infect. 2019 Sep;49(6):483-484. doi: 10.1016/j.medmal.2019.03.014. Epub 2019 Apr 5. No abstract available.

PMID:
30961917
19.

Ocular involvement in granulomatosis with polyangiitis: A single-center cohort study on 63 patients.

Pérez-Jacoiste Asín MA, Charles P, Rothschild PR, Terrier B, Brézin A, Mouthon L, Guillevin L, Puéchal X.

Autoimmun Rev. 2019 May;18(5):493-500. doi: 10.1016/j.autrev.2019.03.001. Epub 2019 Mar 4.

PMID:
30844550
20.

The mental health and wellbeing of midwifery students: An integrative review.

Oates J, Topping A, Arias T, Charles P, Hunter C, Watts K.

Midwifery. 2019 May;72:80-89. doi: 10.1016/j.midw.2019.02.007. Epub 2019 Feb 14. Review. No abstract available.

PMID:
30826662
21.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.

PMID:
30739909
22.

Deacetylation Inhibition Reverses PABPN1-Dependent Muscle Wasting.

Olie CS, Riaz M, Konietzny R, Charles PD, Pinto-Fernandez A, Kiełbasa SM, Aartsma-Rus A, Goeman JJ, Kessler BM, Raz V.

iScience. 2019 Feb 22;12:318-332. doi: 10.1016/j.isci.2019.01.024. Epub 2019 Jan 22.

23.

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC.

AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.

PMID:
30606727
24.

Integrated Physiological and Biochemical Assessments for the Prediction of Growth of Abdominal Aortic Aneurysms in Humans.

Lee R, Charles PD, Lapolla P, Cassimjee I, Huang H, Kessler B, Fischer R, Handa A; Oxford Abdominal Aortic Aneurysm Study, the Oxford Regional Vascular Services.

Ann Surg. 2019 Jul;270(1):e1-e3. doi: 10.1097/SLA.0000000000003154. No abstract available.

PMID:
30601258
25.

Integral small field output factor measurements using a transmission ionisation chamber.

de Chavez R, Jones CE, Charles PH.

Australas Phys Eng Sci Med. 2019 Mar;42(1):235-244. doi: 10.1007/s13246-018-0716-x. Epub 2018 Nov 30.

PMID:
30506344
26.

UFLC-Derived CSF Extracellular Vesicle Origin and Proteome.

Thompson AG, Gray E, Mager I, Fischer R, Thézénas ML, Charles PD, Talbot K, El Andaloussi S, Kessler BM, Wood M, Turner MR.

Proteomics. 2018 Dec;18(24):e1800257. doi: 10.1002/pmic.201800257. Epub 2018 Dec 10.

PMID:
30411858
27.

[Left atrial appendage occlusion in elderly].

Amabile N, Elhadad S, Roig C, Sebag F, Charles P, Caussin C.

Ann Cardiol Angeiol (Paris). 2018 Dec;67(6):444-449. doi: 10.1016/j.ancard.2018.10.001. Epub 2018 Oct 28. Review. French.

PMID:
30376971
28.

Response to: '"MAINRITSAN2-the future", with some doubts!' by Chattopadhyay et al.

Charles P, Guillevin L.

Ann Rheum Dis. 2019 Dec;78(12):e140. doi: 10.1136/annrheumdis-2018-214516. Epub 2018 Oct 26. No abstract available.

PMID:
30366944
29.

Fathers' Criminal Behavior and Involvement With Children: The Moderating Role of Family Relationships.

Charles P, Gorman-Smith D, Schoeny M, Sudec L, Tolan P, Henry D.

J Soc Social Work Res. 2018 Spring;9(1):131-157. doi: 10.1086/695386. Epub 2018 Jan 22.

30.

Quantitative Proteomics Identification of Seminal Fluid Proteins in Male Drosophila melanogaster.

Sepil I, Hopkins BR, Dean R, Thézénas ML, Charles PD, Konietzny R, Fischer R, Kessler BM, Wigby S.

Mol Cell Proteomics. 2019 Mar 15;18(Suppl 1):S46-S58. doi: 10.1074/mcp.RA118.000831. Epub 2018 Oct 4.

31.

Subclinical Changes in Deceased Donor Kidney Proteomes Are Associated With 12-month Allograft Function Posttransplantation-A Preliminary Study.

Kaisar M, van Dullemen L, Charles P, Akhtar ZM, Thézénas ML, Huang H, Klooster A, Watkins NA, Kessler B, Ploeg RJ.

Transplantation. 2019 Feb;103(2):323-328. doi: 10.1097/TP.0000000000002358.

32.

Mechanical ventilation and Streptococcus pneumoniae pneumonia alter mitochondrial homeostasis.

Blot M, Pauchard LA, Dunn I, Donze J, Malnuit S, Rebaud C, Croisier D, Piroth L, Pugin J, Charles PE.

Sci Rep. 2018 Aug 6;8(1):11718. doi: 10.1038/s41598-018-30226-x.

33.

Tocilizumab as an add-on therapy to glucocorticoids during the first 3 months of treatment of Giant cell arteritis: A prospective study.

Samson M, Devilliers H, Ly KH, Maurier F, Bienvenu B, Terrier B, Charles P, Guillevin L, Besancenot JF, Liozon E, Fauchais AL, Loffroy R, Binquet C, Audia S, Seror R, Mariette X, Bonnotte B.

Eur J Intern Med. 2018 Nov;57:96-104. doi: 10.1016/j.ejim.2018.06.008. Epub 2018 Jul 24.

PMID:
30054122
34.

Exploring the way sexually explicit material informs sexual beliefs, understanding and practices of young men: A qualitative survey.

Charles P, Meyrick J.

J Health Psychol. 2018 Jul 27:1359105318788736. doi: 10.1177/1359105318788736. [Epub ahead of print]

PMID:
30052084
35.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.

36.

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T.

J Neurol. 2018 Sep;265(9):2040-2051. doi: 10.1007/s00415-018-8954-0. Epub 2018 Jun 29.

PMID:
29959555
37.

Development and validation of response markers to predict survival and pleurodesis success in patients with malignant pleural effusion (PROMISE): a multicohort analysis.

Psallidas I, Kanellakis NI, Gerry S, Thézénas ML, Charles PD, Samsonova A, Schiller HB, Fischer R, Asciak R, Hallifax RJ, Mercer R, Dobson M, Dong T, Pavord ID, Collins GS, Kessler BM, Pass HI, Maskell N, Stathopoulos GT, Rahman NM.

Lancet Oncol. 2018 Jul;19(7):930-939. doi: 10.1016/S1470-2045(18)30294-8. Epub 2018 Jun 13.

PMID:
29908990
38.

Proteo-metabolomics reveals compensation between ischemic and non-injured contralateral kidneys after reperfusion.

Huang H, van Dullemen LFA, Akhtar MZ, Faro ML, Yu Z, Valli A, Dona A, Thézénas ML, Charles PD, Fischer R, Kaisar M, Leuvenink HGD, Ploeg RJ, Kessler BM.

Sci Rep. 2018 Jun 4;8(1):8539. doi: 10.1038/s41598-018-26804-8.

39.

Response to: 'Not all drugs (and routes) are same' by Zanwar and Gandhi.

Charles P, Guillevin L.

Ann Rheum Dis. 2019 Aug;78(8):e75. doi: 10.1136/annrheumdis-2018-213742. Epub 2018 Jun 1. No abstract available.

PMID:
29858174
40.

A High Aspect Ratio Bifurcated 128-Microchannel Microfluidic Device for Environmental Monitoring of Explosives.

Charles PT, Wadhwa V, Kouyate A, Mesa-Donado KJ, Adams AA, Deschamps JR, Kusterbeck AW.

Sensors (Basel). 2018 May 15;18(5). pii: E1568. doi: 10.3390/s18051568.

41.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease.

Neurology. 2018 Jun 5;90(23):e2059-e2067. doi: 10.1212/WNL.0000000000005660. Epub 2018 May 11.

42.

Comparison of individually tailored versus fixed-schedule rituximab regimen to maintain ANCA-associated vasculitis remission: results of a multicentre, randomised controlled, phase III trial (MAINRITSAN2).

Charles P, Terrier B, Perrodeau É, Cohen P, Faguer S, Huart A, Hamidou M, Agard C, Bonnotte B, Samson M, Karras A, Jourde-Chiche N, Lifermann F, Gobert P, Hanrotel-Saliou C, Godmer P, Martin-Silva N, Pugnet G, Matignon M, Aumaitre O, Viallard JF, Maurier F, Meaux-Ruault N, Rivière S, Sibilia J, Puéchal X, Ravaud P, Mouthon L, Guillevin L; French Vasculitis Study Group.

Ann Rheum Dis. 2018 Aug;77(8):1143-1149. doi: 10.1136/annrheumdis-2017-212878. Epub 2018 Apr 25. Erratum in: Ann Rheum Dis. 2019 Sep;78(9):e101.

PMID:
29695500
43.

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia.

Giraudet F, Charles P, Mom T, Boespflug-Tanguy O, Dürr A, Deltenre P, Avan P.

Clin Neurophysiol. 2018 Jun;129(6):1121-1129. doi: 10.1016/j.clinph.2018.03.005. Epub 2018 Mar 27.

PMID:
29625343
44.

Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome.

Lefrère B, Stepanian A, Itzhar-Baïkian N, Charles P, Hadj-Ali A, Joly B, Alhenc-Gelas M, Drouet L, Veyradier A, Siguret V.

Ann Biol Clin (Paris). 2018 Apr 1;76(2):217-223. doi: 10.1684/abc.2018.1324.

PMID:
29623892
45.

[Which biological parameters for volemic status estimation?]

Vallet M, Jaafar A, Charles PY, Tack I.

Nephrol Ther. 2018 Apr;14 Suppl 1:S83-S88. doi: 10.1016/j.nephro.2018.02.012. French.

PMID:
29606267
46.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S.

Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.

PMID:
29553382
47.

Disagreement in Parental Reports of Father Involvement.

Charles P, Spielfogel J, Gorman-Smith D, Schoeny M, Henry D, Tolan P.

J Fam Issues. 2018;39(2):328-351. doi: 10.1177/0192513X16644639. Epub 2016 Apr 20.

48.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network.

JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121.

49.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L.

Clin Genet. 2018 Jun;93(6):1172-1178. doi: 10.1111/cge.13243. Epub 2018 Apr 14.

PMID:
29460436
50.

A comparative study of three small-field detectors for patient specific stereotactic arc dosimetry.

Webb LK, Inness EK, Charles PH.

Australas Phys Eng Sci Med. 2018 Mar;41(1):217-223. doi: 10.1007/s13246-018-0622-2. Epub 2018 Feb 14.

PMID:
29446004

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