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Showing 25 to 36 of 173 entries
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Identifying the Optimal Number of Neoadjuvant Chemotherapy Cycles in Patients with Muscle Invasive Bladder Cancer.

The Journal of urology

D'Andrea D, Black PC, Zargar H, Dinney CP, Soria F, Cookson MS, Montgomery JS, Kassouf W, Dall'Era MA, Sridhar SS, McGrath JS, Wright JL, Thorpe AC, Holzbeierlein JM, Carrión DM, Di Trapani E, Bivalacqua TJ, North S, Barocas DA, Lotan Y, Grivas P, Stephenson AJ, van Rhijn BW, Daneshmand S, Spiess PE, Shariat SF.
PMID: 34445891
J Urol. 2022 Jan;207(1):70-76. doi: 10.1097/JU.0000000000002190. Epub 2021 Aug 27.

PURPOSE: We investigated the pathological response rates and survival associated with 3 vs 4 cycles of cisplatin-based neoadjuvant chemotherapy (NAC) in patients with cT2-4N0M0 muscle invasive bladder cancer.MATERIALS AND METHODS: In this cohort study we analyzed clinical data of...

Back Pain in a 23-Year-Old Male With X-Linked Chronic Granulomatous Disease.

Open forum infectious diseases

Sabo MC, Blain M, McCulloch D, Glasgow HL, Sengupta DJ, Le T, Cookson BT, Pottinger PS, Liles WC, Graham SM.
PMID: 31723573
Open Forum Infect Dis. 2019 Oct 18;6(11):ofz449. doi: 10.1093/ofid/ofz449. eCollection 2019 Nov.

Patients with chronic granulomatous disease are at increased risk for invasive aspergillosis. Cryptic

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

JAMA neurology

Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E.
PMID: 34459874
JAMA Neurol. 2021 Oct 01;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.

IMPORTANCE: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE: To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS: In...

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

JAMA neurology

Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E.
PMID: 34459874
JAMA Neurol. 2021 Oct 01;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.

IMPORTANCE: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE: To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS: In...

Genetic Factors Associated with Prostate Cancer Conversion from Active Surveillance to Treatment.

HGG advances

Jiang Y, Meyers TJ, Emeka AA, Cooley LF, Cooper PR, Lancki N, Helenowski I, Kachuri L, Lin DW, Stanford JL, Newcomb LF, Kolb S, Finelli A, Fleshner NE, Komisarenko M, Eastham JA, Ehdaie B, Benfante N, Logothetis CJ, Gregg JR, Perez CA, Garza S, Kim J, Marks LS, Delfin M, Barsa D, Vesprini D, Klotz LH, Loblaw A, Mamedov A, Goldenberg SL, Higano CS, Spillane M, Wu E, Carter HB, Pavlovich CP, Mamawala M, Landis T, Carroll PR, Chan JM, Cooperberg MR, Cowan JE, Morgan TM, Siddiqui J, Martin R, Klein EA, Brittain K, Gotwald P, Barocas DA, Dallmer JR, Gordetsky JB, Steele P, Kundu SD, Stockdale J, Roobol MJ, Venderbos LDF, Sanda MG, Arnold R, Patil D, Evans CP, Dall'Era MA, Vij A, Costello AJ, Chow K, Corcoran NM, Rais-Bahrami S, Phares C, Scherr DS, Flynn T, Karnes RJ, Koch M, Dhondt CR, Nelson JB, McBride D, Cookson MS, Stratton KL, Farriester S, Hemken E, Stadler WM, Pera T, Banionyte D, Bianco FJ, Lopez IH, Loeb S, Taneja SS, Byrne N, Amling CL, Martinez A, Boileau L, Gaylis FD, Petkewicz J, Kirwen N, Helfand BT, Xu J, Scholtens DM, Catalona WJ, Witte JS.
PMID: 34993496
HGG Adv. 2022 Jan 13;3(1). doi: 10.1016/j.xhgg.2021.100070. Epub 2021 Nov 19.

Men diagnosed with low-risk prostate cancer (PC) are increasingly electing active surveillance (AS) as their initial management strategy. While this may reduce the side effects of treatment for prostate cancer, many men on AS eventually convert to active treatment....

Association of age with response to preoperative chemotherapy in patients with muscle-invasive bladder cancer.

World journal of urology

D'Andrea D, Black PC, Zargar H, Zargar-Shoshtari K, Soria F, Fairey AS, Mertens LS, Dinney CP, Mir MC, Krabbe LM, Cookson MS, Jacobsen NE, Montgomery JS, Vasdev N, Yu EY, Xylinas E, Campain NJ, Kassouf W, Dall'Era MA, Seah JA, Ercole CE, Horenblas S, Sridhar SS, McGrath JS, Aning J, Wright JL, Thorpe AC, Morgan TM, Holzbeierlein JM, Bivalacqua TJ, North S, Barocas DA, Lotan Y, Grivas P, Stephenson AJ, Shah JB, van Rhijn BW, Daneshmand S, Spiess PE, Shariat SF.
PMID: 34370078
World J Urol. 2021 Dec;39(12):4345-4354. doi: 10.1007/s00345-021-03793-4. Epub 2021 Aug 09.

PURPOSE: To assess the association of patient age with response to preoperative chemotherapy in patients with muscle-invasive bladder cancer (MIBC).MATERIALS AND METHODS: We analyzed data from 1105 patients with MIBC. Patients age was evaluated as continuous variable and stratified...

Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.

Annals of clinical and translational neurology

Guadagnin E, Mohassel P, Johnson KR, Yang L, Santi M, Uapinyoying P, Dastgir J, Hu Y, Dillmann A, Cookson MR, Foley AR, Bönnemann CG.
PMID: 34729958
Ann Clin Transl Neurol. 2021 Nov;8(11):2184-2198. doi: 10.1002/acn3.51450. Epub 2021 Nov 02.

OBJECTIVE: To define the transcriptomic changes responsible for the histologic alterations in skeletal muscle and their progression in collagen VI-related muscular dystrophy (COL6-RD).METHODS: COL6-RD patient muscle biopsies were stratified into three groups based on the overall level of pathologic...

Video-based valve motion combined with computational fluid dynamics gives stable and accurate simulations of blood flow in the Realheart total artificial heart.

Artificial organs

Kelly NS, McCree D, Fresiello L, Brynedal Ignell N, Cookson AN, Najar A, Perkins IL, Fraser KH.
PMID: 34460941
Artif Organs. 2022 Jan;46(1):57-70. doi: 10.1111/aor.14056. Epub 2021 Sep 20.

BACKGROUND: Patients with end-stage, biventricular heart failure, and for whom heart transplantation is not an option, may be given a Total Artificial Heart (TAH). The Realheart® is a novel TAH which pumps blood by mimicking the native heart with...

Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.

PLoS biology

Mamais A, Kluss JH, Bonet-Ponce L, Landeck N, Langston RG, Smith N, Beilina A, Kaganovich A, Ghosh MC, Pellegrini L, Kumaran R, Papazoglou I, Heaton GR, Bandopadhyay R, Maio N, Kim C, LaVoie MJ, Gershlick DC, Cookson MR.
PMID: 34914695
PLoS Biol. 2021 Dec 16;19(12):e3001480. doi: 10.1371/journal.pbio.3001480. eCollection 2021 Dec.

Mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal dominant Parkinson disease (PD), while polymorphic LRRK2 variants are associated with sporadic PD. PD-linked mutations increase LRRK2 kinase activity and induce neurotoxicity in vitro and in vivo. The small GTPase...

LRRK2 mediates tubulation and vesicle sorting from lysosomes.

Science advances

Bonet-Ponce L, Beilina A, Williamson CD, Lindberg E, Kluss JH, Saez-Atienzar S, Landeck N, Kumaran R, Mamais A, Bleck CKE, Li Y, Cookson MR.
PMID: 33177079
Sci Adv. 2020 Nov 11;6(46). doi: 10.1126/sciadv.abb2454. Print 2020 Nov.

Genetic variation around the LRRK2 gene affects risk of both familial and sporadic Parkinson's disease (PD). However, the biological functions of LRRK2 remain incompletely understood. Here, we report that LRRK2 is recruited to lysosomes after exposure of cells to...

Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.

PLoS biology

Mamais A, Kluss JH, Bonet-Ponce L, Landeck N, Langston RG, Smith N, Beilina A, Kaganovich A, Ghosh MC, Pellegrini L, Kumaran R, Papazoglou I, Heaton GR, Bandopadhyay R, Maio N, Kim C, LaVoie MJ, Gershlick DC, Cookson MR.
PMID: 34914695
PLoS Biol. 2021 Dec 16;19(12):e3001480. doi: 10.1371/journal.pbio.3001480. eCollection 2021 Dec.

Mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal dominant Parkinson disease (PD), while polymorphic LRRK2 variants are associated with sporadic PD. PD-linked mutations increase LRRK2 kinase activity and induce neurotoxicity in vitro and in vivo. The small GTPase...

Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease.

Acta neuropathologica

Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A, Pihlstrom L, Torkamani A, Soltis AR, Dalgard CL, Scholz SW, Traynor BJ, Ehrlich D, Scherzer CR, Bookman M, Cookson M, Blauwendraat C, Nalls MA, Singleton AB.
PMID: 33944973
Acta Neuropathol. 2021 Jul;142(1):223-224. doi: 10.1007/s00401-021-02309-z.

No abstract available.

Showing 25 to 36 of 173 entries