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Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States

Molecular genetics and metabolism, 2019-06, Vol.127 (2), p.122-127

2019

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Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice

Journal of primary care & community health, 2023-01, Vol.14, p.21501319231193875-21501319231193875

2023

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Correction to: The evolution of the mitochondrial disease diagnostic odyssey

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.194-194

2023

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The evolution of the mitochondrial disease diagnostic odyssey

Orphanet journal of rare diseases, 2023-06, Vol.18 (1), p.157-157, Article 157

2023

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Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

Data in brief, 2019-08, Vol.25, p.104343-104343, Article 104343

2019

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Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100837-100837, Article 100837

2022

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Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Genetics & genomics next, 2022-03, Vol.3 (1), p.n/a

2022

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Short report: Vaccine attitudes in the age of COVID-19 for a population of children with mitochondrial disease

Research in developmental disabilities, 2022-12, Vol.131, p.104346-104346, Article 104346

2022

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International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

Neuromuscular disorders : NMD, 2017-12, Vol.27 (12), p.1126-1137

2017

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258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Neuromuscular disorders : NMD, 2023-08, Vol.33 (8), p.700-709

2023

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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.388-396

2015

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[3 + 2] Cyclization-elimination route to cyclopentenyl sulfones using (phenylsulfonyl)-1,2-propadiene

Journal of organic chemistry, 1991-10, Vol.56 (22), p.6386-6390

1991

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Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.403-414

2017

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International Workshop

Neuromuscular disorders : NMD, 2017-12, Vol.27 (12), p.1126-1137

2017

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Synthesis of cyclopentenyl sulfones via the [3 + 2] cyclization-elimination reaction of (phenylsulfonyl)allene

Journal of the American Chemical Society, , Vol.110 (5), p.1617-1618

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Tunable regioselectivity associated with the reaction of 2,3-dihalo-1-(phenylsulfonyl)-1-propenes with ambident nucleophilic reagents

Journal of organic chemistry, 1992-02, Vol.57 (4), p.1161-1169

1992

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Cycloaddition of (phenylsulfonyl)-1,2-propadienes with diazomethane. Novel rearrangement reactions of the resulting cycloadducts

Journal of organic chemistry, 1993-04, Vol.58 (8), p.2061-2067

1993

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Use of 2,3-bis(phenylsulfonyl)-1-propene as a multicoupling reagent

Journal of organic chemistry, 1992-01, Vol.57 (1), p.298-306

1992

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Use of 2,3-dibromo-1-(phenylsulfonyl)-1-propene as a reagent for the synthesis of annulated furans

Journal of organic chemistry, 1990-07, Vol.55 (14), p.4241-4242

1990

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Generation and cycloaddition reactions of phenylsulfonyl-substituted 1,3-butadienes

Journal of organic chemistry, 1989-08, Vol.54 (17), p.4232-4235

1989

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Benzaldehyde oxime as a 1,3-dipole chameleon

Journal of organic chemistry, 1987-08, Vol.52 (17), p.3944-3946

1987

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Silyl group transfer in the cycloaddition reactions of silyl iminium salts derived from aryl-substituted oximes

Journal of organic chemistry, 1989-09, Vol.54 (18), p.4430-4437

1989

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Synthesis of vinylic and cyclic sulfones via a radical addition-elimination sequence

Tetrahedron letters, 1990, Vol.31 (21), p.2983-2986

1990

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Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States

Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice

Correction to: The evolution of the mitochondrial disease diagnostic odyssey

The evolution of the mitochondrial disease diagnostic odyssey

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Short report: Vaccine attitudes in the age of COVID-19 for a population of children with mitochondrial disease

International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

[3 + 2] Cyclization-elimination route to cyclopentenyl sulfones using (phenylsulfonyl)-1,2-propadiene

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

International Workshop

Synthesis of cyclopentenyl sulfones via the [3 + 2] cyclization-elimination reaction of (phenylsulfonyl)allene

Tunable regioselectivity associated with the reaction of 2,3-dihalo-1-(phenylsulfonyl)-1-propenes with ambident nucleophilic reagents

Cycloaddition of (phenylsulfonyl)-1,2-propadienes with diazomethane. Novel rearrangement reactions of the resulting cycloadducts

MSeqDR: Making genomics accessible to the mitochondrial disease community

Use of 2,3-bis(phenylsulfonyl)-1-propene as a multicoupling reagent

Use of 2,3-dibromo-1-(phenylsulfonyl)-1-propene as a reagent for the synthesis of annulated furans

Generation and cycloaddition reactions of phenylsulfonyl-substituted 1,3-butadienes

Benzaldehyde oxime as a 1,3-dipole chameleon

Silyl group transfer in the cycloaddition reactions of silyl iminium salts derived from aryl-substituted oximes

Synthesis of vinylic and cyclic sulfones via a radical addition-elimination sequence

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