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Search life-sciences literature (45,104,145 articles, preprints and more)

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The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failure.
Draper I, Huang W, Pande S, Zou A, Calamaras TD, Choe RH, Correia-Branco A, Mei AL, Chen HH, Littel HR, Gunasekaran M, Wells NM, Bruels CC, Daugherty AL, Wolf MJ, Kang PB, Yang VK, Slonim DK, Wallingford MC, Blanton RM
FEBS Lett, 598(21):2670-2682, 19 Sep 2024
Cited by: 0 articles | PMID: 39300280
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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, [...] Weihl CC
Ann Clin Transl Neurol, 11(9):2268-2276, 30 Aug 2024
Cited by: 0 articles | PMID: 39215466 | PMCID: PMC11537137
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AAV-DJ is superior to AAV9 for targeting brain and spinal cord, and de-targeting liver across multiple delivery routes in mice.
Chauhan M, Daugherty AL, Khadir FE, Duzenli OF, Hoffman A, Tinklenberg JA, Kang PB, Aslanidi G, Pacak CA
J Transl Med, 22(1):824, 05 Sep 2024
Cited by: 0 articles | PMID: 39237935 | PMCID: PMC11375878
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Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB
Muscle Nerve, 70(4):843-850, 28 Jul 2024
Cited by: 0 articles | PMID: 39072769
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Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.
Dofash L, Lyengar K, Pereira N, Parmar J, Folland C, Laing N, Kang PB, Cairns A, Lynch M, Davis M, Ravenscroft G
Neuromuscul Disord, 42:36-42, 06 Jul 2024
Cited by: 0 articles | PMID: 39121631
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Diagnoses of muscular dystrophy in a veterans health system.
Zingariello CD, Mohamed Y, Jorand-Fletcher M, Wymer J, Kang PB, Rasmussen SA
Muscle Nerve, 70(2):273-278, 23 May 2024
Cited by: 0 articles | PMID: 38783566
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Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB
Neurol Clin Pract, 14(4):e200309, 16 May 2024
Cited by: 0 articles | PMID: 38808024
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Effects of HMGCR deficiency on skeletal muscle development
Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Benito DN, Draper I, Bruels CC, [...] Kang PB
bioRxiv, 08 May 2024
Cited by: 0 articles | PPR: PPR850096
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AAV-DJ is Superior to AAV9 for Targeting Brain and Spinal Cord, and De-Targeting Liver Across Multiple Delivery Routes in Mice
Chauhan M, Daugherty AL, Khadir FE, Duzenli OF, Hoffman A, Tinklenberg JA, Kang PB, Aslanidi G, Pacak CA
bioRxiv, 07 May 2024
Cited by: 0 articles | PPR: PPR849537
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Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Baneye Maiga A, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, [...] Weihl CC
bioRxiv, 06 May 2024
Cited by: 0 articles | PPR: PPR848060
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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O’Heir E, O’Leary M, Pais L, Stafki SA, Daugherty AL, Folland C, Perić S, Fahmy N, Udd B, Horakova M, Łusakowska A, Manoj R, [...] O’Donnell-Luria A
medRxiv, 13 Feb 2024
Cited by: 0 articles | PPR: PPR805318
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Skipping, Steroids, and Genes: The First 7 Therapies for Duchenne Muscular Dystrophy.
Kang PB
Neurology, 102(5):e209210, 09 Feb 2024
Cited by: 0 articles | PMID: 38335475
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Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Kang PB, Jorand-Fletcher M, Zhang W, McDermott SW, Berry R, Chambers C, Wong KN, Mohamed Y, Thomas S, Venkatesh YS, Westfield C, Whitehead N, Johnson NE, Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Neurol Genet, 9(6):e200113, 17 Nov 2023
Cited by: 1 article | PMID: 38045992 | PMCID: PMC10692796
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One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle.
Pacak CA, Suzuki-Hatano S, Khadir F, Daugherty AL, Sriramvenugopal M, Gosiker BJ, Kang PB, Cade WT
J Transl Med, 21(1):748, 24 Oct 2023
Cited by: 1 article | PMID: 37875924 | PMCID: PMC10598899
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Pediatric Neuromuscular Diseases.
Rathore G, Kang PB
Pediatr Neurol, 149:1-14, 29 Aug 2023
Cited by: 2 articles | PMID: 37757659
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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, [...] Klee EW
Am J Hum Genet, 110(6):989-997, 10 May 2023
Cited by: 8 articles | PMID: 37167966 | PMCID: PMC10257193
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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS
Mol Genet Metab, 138(3):107525, 25 Jan 2023
Cited by: 9 articles | PMID: 36796138
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, [...] Natera-de Benito D
Acta Neuropathol, 145(4):479-496, 17 Feb 2023
Cited by: 1 article | PMID: 36799992
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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, [...] Kang PB
Pediatr Neurol, 141:79-86, 24 Jan 2023
Cited by: 6 articles | PMID: 36791574 | PMCID: PMC10098370
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Peripheral neuropathies associated with DNA repair disorders.
Maguina M, Kang PB, Tsai AC, Pacak CA
Muscle Nerve, 67(2):101-110, 03 Oct 2022
Cited by: 4 articles | PMID: 36190439 | PMCID: PMC10075233
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Can We Generalize Key Principles in the Care of Rare Diseases? The Case for Adrenoleukodystrophy.
Carlson MD, Kang PB
Neurology, 99(21):929-930, 29 Sep 2022
Cited by: 0 articles | PMID: 36175146
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The Notch signaling pathway in skeletal muscle health and disease.
Vargas-Franco D, Kalra R, Draper I, Pacak CA, Asakura A, Kang PB
Muscle Nerve, 66(5):530-544, 15 Aug 2022
Cited by: 14 articles | PMID: 35968817 | PMCID: PMC9804383
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group, Straub V, van Ruiten H, [...] Chang T
JAMA, 327(15):1456-1468, 01 Apr 2022
Cited by: 36 articles | PMID: 35381069 | PMCID: PMC8984930
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Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, [...] Kang PB
Ann Clin Transl Neurol, 9(8):1302-1309, 23 Jun 2022
Cited by: 13 articles | PMID: 35734998 | PMCID: PMC9380148
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Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury.
Portwood KE, Albayram MS, Stone S, Zingariello CD, Sladky JT, Chim H, Kang PB
Dev Med Child Neurol, 64(10):1254-1261, 07 May 2022
Cited by: 1 article | PMID: 35524644 | PMCID: PMC9544348
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