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Suggested authors matching "AUTH:Adang L" with an ORCID

Laura Adang
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Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.
Kotes E, Gavazzi F, Woidill S, Sevagamoorthy A, Yang E, Smith V, Dubbs H, Pierce SR, Pucci K, Vithayathil J, Thakur N, Adang LA
J Child Neurol, 8830738241283932, 08 Oct 2024
Cited by: 0 articles | PMID: 39376195
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Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang LA, Van Haren K, Sampson J, Eichler FS, Sadjadi R, Engelen M, Orthmann-Murphy JL
Neurol Genet, 10(5):e200192, 03 Oct 2024
Cited by: 0 articles | PMID: 39372123 | PMCID: PMC11450743
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Systemic complications of Aicardi Goutières syndrome using real-world data.
Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA
Mol Genet Metab, 143(1-2):108578, 15 Sep 2024
Cited by: 0 articles | PMID: 39332260
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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.
Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, [...] Wolf NI
Neurology, 103(6):e209743, 22 Aug 2024
Cited by: 1 article | PMID: 39173102 | PMCID: PMC11379353
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Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.
Pham V, Tricoli L, Hong X, Wongkittichote P, Castruccio Castracani C, Guerra A, Schlotawa L, Adang LA, Kuhs A, Cassidy MM, Kane O, Tsai E, Presa M, Lutz C, Rivella SB, Ahrens-Nicklas RC
Mol Ther, 32(11):3829-3846, 22 Aug 2024
Cited by: 0 articles | PMID: 39169621
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IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.
Adang LA, D'Aiello R, Takanohashi A, Woidill S, Gavazzi F, Behrens EM, Sullivan KE, Goldbach-Mansky R, de Jesus AA, AGS Clinical Trial Readiness Workgroup, Vanderver A, Shults J
JCI Insight, 9(14):e178456, 17 Jun 2024
Cited by: 0 articles | PMID: 38885315 | PMCID: PMC11383167
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Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, [...] Escolar ML
Mol Genet Metab, 142(4):108521, 29 Jun 2024
Cited by: 0 articles | PMID: 38964050
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Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.
Gavazzi F, Vaia Y, Woidill S, Formanowski B, Peixoto de Barcelos I, Sevagamoorthy A, Modesti NB, Charlton L, Cusack SV, Vincent A, D'Aiello R, Jawad A, Galli J, Varesio C, Fazzi E, Orcesi S, Glanzman AM, Lorch S, DeMauro SB, [...] Adang LA
Neurology, 103(1):e209541, 10 Jun 2024
Cited by: 0 articles | PMID: 38857477
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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, [...] Vanderver A
Mol Genet Metab, 142(1):108453, 18 Mar 2024
Cited by: 1 article | PMID: 38522179
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Metachromatic leukodystrophy: A story of hope woven from sorrow.
Adang L
Mol Ther, 32(5):1179, 16 Apr 2024
Cited by: 0 articles | PMID: 38631350
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Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, [...] Vanderver A
Cytotherapy, 26(7):739-748, 01 Apr 2024
Cited by: 2 articles | PMID: 38613540
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Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
Cusack SV, Gavazzi F, de Barcelos IP, Modesti NB, Woidill S, Formanowski B, DeMauro SB, Lorch S, Vincent A, Jawad AF, Estilow T, Glanzman AM, Vanderver A, Adang LA
J Child Neurol, 39(3-4):147-154, 27 Mar 2024
Cited by: 0 articles | PMID: 38532733
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Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
Tricoli L, Sase S, Hacker J, Pham V, Smith S, Chappell M, Breda L, Hurwitz S, Tanaka N, Castracani CC, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Kurre P, Ahrens-Nicklas R, Adang L, Vanderver A, Rivella S
bioRxiv, 14 Mar 2024
Cited by: 0 articles | PPR: PPR823051
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Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
Pham V, Tricoli L, Hong X, Wongkittichote P, Castruccio Castracani C, Guerra A, Schlotawa L, Adang LA, Kuhs A, Cassidy MM, Kane O, Tsai E, Presa M, Lutz C, Rivella SB, Ahrens-Nicklas RC
bioRxiv, 12 Mar 2024
Cited by: 0 articles | PPR: PPR819529
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Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, [...] Groeschel S
Eur J Paediatr Neurol, 49:141-154, 09 Mar 2024
Cited by: 2 articles | PMID: 38554683
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Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI
Orphanet J Rare Dis, 19(1):46, 07 Feb 2024
Cited by: 3 articles | PMID: 38326898 | PMCID: PMC10848395
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Nucleotide metabolism, leukodystrophies, and CNS pathology.
Gavazzi F, Gonzalez CD, Arnold K, Swantkowski M, Charlton L, Modesti N, Dar AA, Vanderver A, Bennett M, Adang LA
J Inherit Metab Dis, 47(5):860-875, 29 Feb 2024
Cited by: 2 articles | PMID: 38421058
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Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP, Woidill S, Gavazzi F, Modesti NB, Sevagamoorthy A, Vanderver A, Adang L
Mol Genet Metab, 142(1):108346, 13 Feb 2024
Cited by: 0 articles | PMID: 38368708
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TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids.
Goldberg G, Coelho L, Mo G, Adang LA, Patne M, Chen Z, Garcia-Bassets I, Mesci P, Muotri AR
Mol Psychiatry, 29(3):566-579, 21 Dec 2023
Cited by: 0 articles | PMID: 38129659 | PMCID: PMC11153041
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Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC
J Inherit Metab Dis, 47(2):374-386, 01 Nov 2023
Cited by: 2 articles | PMID: 37870986
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Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
Gavazzi F, Glanzman AM, Woidill S, Formanowski B, Dixit A, Isaacs D, Kornafel T, Ballance E, Pierce SR, Modesti N, Barcelos I, Cusack SV, Jan AK, Flores Z, Sherbini O, Vincent A, D'Aiello R, Lorch SA, DeMauro SB, [...] Adang L
J Child Neurol, 38(8-9):518-527, 27 Jul 2023
Cited by: 2 articles | PMID: 37499181 | PMCID: PMC10530058
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Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
Gavazzi F, Patel V, Charsar B, Glanzman A, Erler J, Sevagamoorthy A, McKenzie E, Kornafel T, Ballance E, Pierce SR, Teng M, Formanowski B, Woidill S, Shults J, Wassmer E, Tonduti D, Magrinelli F, Bernard G, Van Der Knaap M, [...] Vanderver A
J Child Neurol, 38(8-9):498-504, 17 Jul 2023
Cited by: 2 articles | PMID: 37461315 | PMCID: PMC10527384
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Pulmonological issues.
Perez G, Young L, Kravitz R, Sheehan D, Adang L, Van Haren K, Lin JL, Jaffe NN, Kuo D, Ball L, Keller J, Sank J, DiVito D, Naime S
Curr Probl Pediatr Adolesc Health Care, 52(12):101313, 05 Dec 2022
Cited by: 1 article | PMID: 36470809 | PMCID: PMC11348663
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SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
Takanohashi A, Alameh MG, Woidill S, Hacker J, Davis B, Helman G, Gavazzi F, Adang L, D'Aiello R, Winters P, Cordova D, Khandaker T, Ni H, Tam Y, Lin P, Weissman D, Shults J, Vanderver A
Mol Genet Metab, 137(4):320-327, 10 Oct 2022
Cited by: 1 article | PMID: 36334423 | PMCID: PMC9550281
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Leukodystrophies.
Adang L
Continuum (Minneap Minn), 28(4):1194-1216, 01 Aug 2022
Cited by: 1 article | PMID: 35938662 | PMCID: PMC11320896
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Search life-sciences literature (45,103,589 articles, preprints and more)

Suggested authors matching "AUTH:Adang L" with an ORCID

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Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Systemic complications of Aicardi Goutières syndrome using real-world data.

Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

Metachromatic leukodystrophy: A story of hope woven from sorrow.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.

Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.

Nucleotide metabolism, leukodystrophies, and CNS pathology.

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids.

Biochemical signatures of disease severity in multiple sulfatase deficiency.

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.

Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

Pulmonological issues.

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.

Leukodystrophies.

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