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

Year Number of Results
1948 1
1949 3
1950 1
1962 1
1966 1
1968 1
1969 3
1975 2
1976 2
1977 2
1978 1
1980 4
1981 4
1982 10
1983 4
1984 3
1985 3
1986 5
1987 7
1988 2
1989 2
1990 6
1991 10
1992 7
1993 15
1994 5
1995 10
1996 7
1997 12
1998 8
1999 10
2000 12
2001 11
2002 10
2003 16
2004 14
2005 14
2006 14
2007 19
2008 21
2009 26
2010 24
2011 26
2012 32
2013 41
2014 42
2015 47
2016 29
2017 33
2018 40
2019 38
2020 52
2021 43
2022 61
2023 37
2024 15

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787 results

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
A gerophysiology perspective on healthy ageing.
Kemoun P, Ader I, Planat-Benard V, Dray C, Fazilleau N, Monsarrat P, Cousin B, Paupert J, Ousset M, Lorsignol A, Raymond-Letron I, Vellas B, Valet P, Kirkwood T, Beard J, Pénicaud L, Casteilla L. Kemoun P, et al. Among authors: cousin b. Ageing Res Rev. 2022 Jan;73:101537. doi: 10.1016/j.arr.2021.101537. Epub 2021 Dec 6. Ageing Res Rev. 2022. PMID: 34883201 Free article. Review.
It provides the basis of a gerophysiology perspective, possibly representing a better way to decipher healthy ageing, not only by defining a composite biomarker(s) but also by developing new preventive/curative strategies....
It provides the basis of a gerophysiology perspective, possibly representing a better way to decipher healthy ageing, not only by defining a …
Chromosome-level organization of the regulatory genome in the Drosophila nervous system.
Mohana G, Dorier J, Li X, Mouginot M, Smith RC, Malek H, Leleu M, Rodriguez D, Khadka J, Rosa P, Cousin P, Iseli C, Restrepo S, Guex N, McCabe BD, Jankowski A, Levine MS, Gambetta MC. Mohana G, et al. Among authors: cousin p. Cell. 2023 Aug 31;186(18):3826-3844.e26. doi: 10.1016/j.cell.2023.07.008. Epub 2023 Aug 2. Cell. 2023. PMID: 37536338
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: cousin ma. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
A Large Randomized Trial: Effects of Mindfulness-Based Stress Reduction (MBSR) for Breast Cancer (BC) Survivors on Salivary Cortisol and IL-6.
Lengacher CA, Reich RR, Paterson CL, Shelton M, Shivers S, Ramesar S, Pleasant ML, Budhrani-Shani P, Groer M, Post-White J, Johnson-Mallard V, Kane B, Cousin L, Moscoso MS, Romershausen TA, Park JY. Lengacher CA, et al. Among authors: cousin l. Biol Res Nurs. 2019 Jan;21(1):39-49. doi: 10.1177/1099800418789777. Epub 2018 Aug 5. Biol Res Nurs. 2019. PMID: 30079756 Free PMC article. Clinical Trial.
Practical dissolution dynamic nuclear polarization.
Elliott SJ, Stern Q, Ceillier M, El Daraï T, Cousin SF, Cala O, Jannin S. Elliott SJ, et al. Among authors: cousin sf. Prog Nucl Magn Reson Spectrosc. 2021 Oct-Dec;126-127:59-100. doi: 10.1016/j.pnmrs.2021.04.002. Epub 2021 May 21. Prog Nucl Magn Reson Spectrosc. 2021. PMID: 34852925 Review.
Combination lurbinectedin and doxorubicin versus physician's choice of chemotherapy in patients with relapsed small-cell lung cancer (ATLANTIS): a multicentre, randomised, open-label, phase 3 trial.
Aix SP, Ciuleanu TE, Navarro A, Cousin S, Bonanno L, Smit EF, Chiappori A, Olmedo ME, Horvath I, Grohé C, Farago AF, López-Vilariño JA, Cullell-Young M, Nieto A, Vasco N, Gómez J, Kahatt C, Zeaiter A, Carcereny E, Roubec J, Syrigos K, Lo G, Barneto I, Pope A, Sánchez A, Kattan J, Zarogoulidis K, Waller CF, Bischoff H, Juan-Vidal O, Reinmuth N, Dómine M, Paz-Ares L. Aix SP, et al. Among authors: cousin s. Lancet Respir Med. 2023 Jan;11(1):74-86. doi: 10.1016/S2213-2600(22)00309-5. Epub 2022 Oct 14. Lancet Respir Med. 2023. PMID: 36252599 Clinical Trial.
Patients were randomly assigned (1:1) centrally by dynamic allocation to intravenous lurbinectedin 2.0 mg/m(2) plus doxorubicin 40.0 mg/m(2) administered on day 1 of 21-day cycles or physician's choice of control therapy (intravenous topotecan 1.5 mg/m(2) on days 1-5 of 21 …
Patients were randomly assigned (1:1) centrally by dynamic allocation to intravenous lurbinectedin 2.0 mg/m(2) plus doxorubicin 40.0 mg/m(2) …
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: cousin ma. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
Dynamin is primed at endocytic sites for ultrafast endocytosis.
Imoto Y, Raychaudhuri S, Ma Y, Fenske P, Sandoval E, Itoh K, Blumrich EM, Matsubayashi HT, Mamer L, Zarebidaki F, Söhl-Kielczynski B, Trimbuch T, Nayak S, Iwasa JH, Liu J, Wu B, Ha T, Inoue T, Jorgensen EM, Cousin MA, Rosenmund C, Watanabe S. Imoto Y, et al. Among authors: cousin ma. Neuron. 2022 Sep 7;110(17):2815-2835.e13. doi: 10.1016/j.neuron.2022.06.010. Epub 2022 Jul 8. Neuron. 2022. PMID: 35809574 Free PMC article.
787 results