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Search life-sciences literature (45,104,206 articles, preprints and more)

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In vivoTreatment of a Severe Vascular Disease via a Bespoke CRISPR-Cas9 Base Editor
Alves CRR, Das S, Krishnan V, Ha LL, Fox LR, Stutzman HE, Shamber CE, Kalailingam P, McCarthy S, Cardenas CLL, Fong CE, Imai T, Mitra S, Yun S, Wood RK, Benning FMC, Lawton J, Kim N, Silverstein RA, [...] Musolino PL
bioRxiv, 11 Nov 2024
Cited by: 0 articles | PPR: PPR938197
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Involvement of the Posterior Visual Pathway Correlates with Higher-Order Visual Impairment in Childhood Stroke Patients
Da Cruz E, Tambala D, Lynch A, Manley C, Bambery M, Kelly D, Chui C, Alhadid K, Sullivan AW, Grieco J, Ondeck B, Lauer A, Merabet LB, Musolino PL
medRxiv, 05 Nov 2024
Cited by: 0 articles | PPR: PPR935170
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Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, [...] Williams DA
N Engl J Med, 391(14):1302-1312, 01 Oct 2024
Cited by: 0 articles | PMID: 39383459
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Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, [...] MGH Myhre Syndrome Study Group
Am J Med Genet A, 194(10):e63638, 23 May 2024
Cited by: 1 article | PMID: 38779990
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An Engineered Adeno-Associated Virus Capsid Mediates Efficient Transduction of Pericytes and Smooth Muscle Cells of the Brain Vasculature.
Ramirez SH, Hale JF, McCarthy S, Cardenas CL, Dona KNUG, Hanlon KS, Hudry E, Cruz D, Ng C, Das S, Nguyen DM, Nammour J, Bennett RE, Andrews AM, Musolino PL, Maguire CA
Hum Gene Ther, 34(15-16):682-696, 01 Aug 2023
Cited by: 5 articles | PMID: 37376759 | PMCID: PMC10457656
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Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series.
Ostrem BEL, Godfrey D, Caruso PA, Musolino PL
Pediatr Neurol, 149:39-43, 09 Sep 2023
Cited by: 1 article | PMID: 37776659
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A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome.
Lino Cardenas CL, Briere LC, Sweetser DA, Lindsay ME, Musolino PL
J Clin Invest, 133(5):e166497, 01 Mar 2023
Cited by: 3 articles | PMID: 36649075 | PMCID: PMC9974090
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Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.
Lauer A, Speroni SL, Choi M, Da X, Duncan C, McCarthy S, Krishnan V, Lusk CA, Rohde D, Hansen MB, Kalpathy-Cramer J, Loes DJ, Caruso PA, Williams DA, Mouridsen K, Emblem KE, Eichler FS, Musolino PL
Nat Commun, 14(1):1900, 05 Apr 2023
Cited by: 2 articles | PMID: 37019892 | PMCID: PMC10076264
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Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient.
Raghuram A, Sanchez S, Lu Y, Hickerson M, Mayorga MBS, Romero JM, Matsumoto S, Musolino PL, Samaniego EA
J Stroke Cerebrovasc Dis, 32(3):106938, 06 Jan 2023
Cited by: 1 article | PMID: 36621119 | PMCID: PMC9928873
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Co-occurring Pathogenic Variants in 6q27 Associated with Dementia Spectrum Disorders in a Peruvian Family
Alvarez KLF, Aguilar-Pineda JA, Ortiz-Manrique MM, Paredes-Calderon MF, Cardenas-Quispe BC, Vera-Lopez KJ, Goyzueta-Mamani LD, Chavez-Fumagalli MA, Del-Carpio GD, Peralta-Mestas A, Musolino PL, Lino Cardenas CL
medRxiv, 18 Nov 2022
Cited by: 0 articles | PPR: PPR573021
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Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.
Alvarez KLF, Aguilar-Pineda JA, Ortiz-Manrique MM, Paredes-Calderon MF, Cardenas-Quispe BC, Vera-Lopez KJ, Goyzueta-Mamani LD, Chavez-Fumagalli MA, Davila-Del-Carpio G, Peralta-Mestas A, Musolino PL, Lino Cardenas CL
Front Mol Neurosci, 16:1104585, 16 Feb 2023
Cited by: 0 articles | PMID: 36873109 | PMCID: PMC9978490
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The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives.
Hausman-Kedem M, Herring R, Torres MD, Santoro JD, Kaseka ML, Vargas C, Amico G, Bertamino M, Nagesh D, Tilley J, Schenk A, Ben-Shachar S, Musolino PL
Semin Pediatr Neurol, 44:100999, 23 Sep 2022
Cited by: 0 articles | PMID: 36456039
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Burden of Stroke and Population-Attributable Fractions of Risk Factors in Latin America and the Caribbean.
Pacheco-Barrios K, Giannoni-Luza S, Navarro-Flores A, Rebello-Sanchez I, Parente J, Balbuena A, de Melo PS, Otiniano-Sifuentes R, Rivera-Torrejón O, Abanto C, Alva-Diaz C, Musolino PL, Fregni F
J Am Heart Assoc, 11(21):e027044, 26 Oct 2022
Cited by: 10 articles | PMID: 36285788 | PMCID: PMC9673624
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Teaching NeuroImage: Needle-like Occipital Spikes in Children With Visual Impairment.
Nascimento FA, McLaren JR, Musolino PL, Thiele EA
Neurology, 99(12):537-538, 02 Aug 2022
Cited by: 0 articles | PMID: 35918165 | PMCID: PMC9576295
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A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.
Mallack EJ, Askin G, van de Stadt S, Caruso PA, Musolino PL, Engelen M, Niogi SN, Eichler FS
AJNR Am J Neuroradiol, 42(10):1904-1911, 09 Sep 2021
Cited by: 1 article | PMID: 34503945 | PMCID: PMC8562733
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Gene-Targeted Therapies in Pediatric Neurology: Challenges and Opportunities in Diagnosis and Delivery.
Shellhaas RA, deVeber G, Bonkowsky JL, Child Neurology Society Research Committee
Pediatr Neurol, 125:53-57, 25 Sep 2021
Cited by: 3 articles | PMID: 34628144 | PMCID: PMC9472447
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The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy.
Rodríguez-Pascau L, Vilalta A, Cerrada M, Traver E, Forss-Petter S, Weinhofer I, Bauer J, Kemp S, Pina G, Pascual S, Meya U, Musolino PL, Berger J, Martinell M, Pizcueta P
Sci Transl Med, 13(596):eabc0555, 01 Jun 2021
Cited by: 19 articles | PMID: 34078742
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Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants.
Lauer A, Speroni SL, Patel JB, Regalado E, Choi M, Smith E, Kalpathy-Kramer J, Caruso P, Milewicz DM, Musolino PL
Neurology, 96(4):e538-e552, 16 Nov 2020
Cited by: 13 articles | PMID: 33199432 | PMCID: PMC7905785
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Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Zierfuss B, Altmann P, Foiani M, Heslegrave A, Zetterberg H, Gleiss A, Musolino PL, Gong Y, Forss-Petter S, Berger T, Eichler F, Aubourg P, Köhler W, Berger J
Nat Commun, 12(1):1816, 22 Mar 2021
Cited by: 25 articles | PMID: 33753741 | PMCID: PMC7985512
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Pediatric Neurology Research in the Twenty-First Century: Status, Challenges, and Future Directions Post-COVID-19.
Bonkowsky JL, deVeber G, Kosofsky BE, Child Neurology Society Research Committee
Pediatr Neurol, 113:2-12, 26 Aug 2020
Cited by: 1 article | PMID: 32979654 | PMCID: PMC10256134
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Clinical Diffusion Mismatch to Select Pediatric Patients for Embolectomy 6 to 24 Hours After Stroke: An Analysis of the Save ChildS Study.
Sporns PB, Psychogios MN, Straeter R, Hanning U, Minnerup J, Chapot R, Henkes H, Henkes E, Grams A, Dorn F, Nikoubashman O, Wiesmann M, Bier G, Weber A, Broocks G, Fiehler J, Brehm A, Kaiser D, Yilmaz U, [...] Save ChildS Investigators
Neurology, 96(3):e343-e351, 03 Nov 2020
Cited by: 10 articles | PMID: 33144517 | PMCID: PMC7884981
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Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.
Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS
Neurology, 94(24):e2499-e2507, 01 Jun 2020
Cited by: 13 articles | PMID: 32482842 | PMCID: PMC7455338
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MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
Neurology, 92(15):e1698-e1708, 22 Mar 2019
Cited by: 25 articles | PMID: 30902905 | PMCID: PMC6511088
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ABCD1 dysfunction alters white matter microvascular perfusion.
Lauer A, Da X, Hansen MB, Boulouis G, Ou Y, Cai X, Liberato Celso Pedrotti A, Kalpathy-Cramer J, Caruso P, Hayden DL, Rost N, Mouridsen K, Eichler FS, Rosen B, Musolino PL
Brain, 140(12):3139-3152, 01 Dec 2017
Cited by: 16 articles | PMID: 29136088 | PMCID: PMC5841142
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Diffuse microvascular dysfunction and loss of white matter integrity predict poor outcomes in patients with acute ischemic stroke.
Rost NS, Cougo P, Lorenzano S, Li H, Cloonan L, Bouts MJ, Lauer A, Etherton MR, Karadeli HH, Musolino PL, Copen WA, Arai K, Lo EH, Feske SK, Furie KL, Wu O
J Cereb Blood Flow Metab, 38(1):75-86, 08 May 2017
Cited by: 40 articles | PMID: 28481164 | PMCID: PMC5757442
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1-25 of 37 results

1 2

Search life-sciences literature (45,104,206 articles, preprints and more)

Search results

In vivoTreatment of a Severe Vascular Disease via a Bespoke CRISPR-Cas9 Base Editor

Involvement of the Posterior Visual Pathway Correlates with Higher-Order Visual Impairment in Childhood Stroke Patients

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).

An Engineered Adeno-Associated Virus Capsid Mediates Efficient Transduction of Pericytes and Smooth Muscle Cells of the Brain Vasculature.

Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series.

A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome.

Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.

Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient.

Co-occurring Pathogenic Variants in 6q27 Associated with Dementia Spectrum Disorders in a Peruvian Family

Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family.

The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives.

Burden of Stroke and Population-Attributable Fractions of Risk Factors in Latin America and the Caribbean.

Teaching NeuroImage: Needle-like Occipital Spikes in Children With Visual Impairment.

A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.

Gene-Targeted Therapies in Pediatric Neurology: Challenges and Opportunities in Diagnosis and Delivery.

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy.

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants.

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.

Pediatric Neurology Research in the Twenty-First Century: Status, Challenges, and Future Directions Post-COVID-19.

Clinical Diffusion Mismatch to Select Pediatric Patients for Embolectomy 6 to 24 Hours After Stroke: An Analysis of the Save ChildS Study.

Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.

ABCD1 dysfunction alters white matter microvascular perfusion.

Diffuse microvascular dysfunction and loss of white matter integrity predict poor outcomes in patients with acute ischemic stroke.

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