J. Shoffner

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Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients.

D. Wallace, B. Graham, M. F. Cabell, 1996, American journal of medical genetics.

Mitochondrial diabetes revisited

D. Wallace, S. Ballinger, J. Shoffner, 1994, Nature Genetics.

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

D. Wallace, M. Lott, S. Ballinger, 1990, Cell.

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

B. Crain, M. Gearing, S. Mirra, 1993, Genomics.

Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.

A. Torroni, D. Wallace, M. Brown, 1992, American journal of human genetics.

Developmental Regression and Mitochondrial Dysfunction in a Child With Autism

J. Shoffner, R. Frye, A. Zimmerman, 2006, Journal of child neurology.

Novel mitochondrial DNA deletion found in a renal cell carcinoma

D. Wallace, J. Shoffner, A. Heddi, 1996, Genes, chromosomes & cancer.

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV

M. Lott, J. Shoffner, N. Krawiecki, 1989, Neurology.

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

A. Kirton, J. Shoffner, C. Morel, 2009, Pediatric neurology.

Mitochondrial defects in basal ganglia diseases.

J. Shoffner, 1995, Current opinion in neurology.

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle.

S. Melov, D. Wallace, J. Shoffner, 1995, Nucleic acids research.

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies.

D. Wallace, J. Shoffner, X. Zheng, 1990, Biochimica et biophysica acta.

Insulin resistance associated with maternally inherited diabetes and deafness.

D. Wallace, J. Shoffner, D. Koontz, 1996, Metabolism: clinical and experimental.

Renal amino acid transport in adults with oxidative phosphorylation diseases.

D. Wallace, W. Mitch, J. Shoffner, 1995, Kidney international.

Heart disease and mitochondrial DNA mutations.

D. Wallace, J. Shoffner, 1992, Heart disease and stroke : a journal for primary care physicians.

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease

J. Shoffner, Aneal Khan, Stacey Hume, 2019, Neurology: Genetics.

Abstracts for the committee on the genetic constitution of chromosome 1

Brien, J. Beckmann, K. Kidd, 1991 .

Oxidative Phosphorylation Disease Diagnosis

J. Shoffner, 1999, Annals of the New York Academy of Sciences.

Oxidative phosphorylation defect associated with primary adrenal insufficiency.

I. Holm, J. Shoffner, K. North, 1996, The Journal of pediatrics.

Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation.

N. Newman, D. Wallace, J. Shoffner, 1993, Archives of ophthalmology.

Mitochondrial genetics: principles and practice.

D. Wallace, J. Shoffner, 1992, American journal of human genetics.

Mechanisms of Mitochondrial Defects in Gulf War Syndrome

J. Shoffner, 2011 .

Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment.

D. Wallace, J. Shoffner, 1994, Annual review of nutrition.

Rod photoreceptor function in children with mitochondrial disorders.

R. Hansen, A. Fulton, J. Shoffner, 2002, Archives of ophthalmology.

Oxidative Phosphorylation Diseases: Chapter 46.

A. Beaudet, W. Sly, D. Valle, 1995 .

Mechanisms of Mitochondrial Dysfunction in Autism

J. Shoffner, 2011 .

Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia.

H. Grossniklaus, J. Shoffner, A. Drack, 1997, American journal of ophthalmology.

Fever Plus Mitochondrial Disease Could Be Risk Factors for Autistic Regression

Keith Hyland, J. Shoffner, John Shoffner, 2010, Journal of child neurology.

Cerebral folate deficiency

J. Shoffner, S. Heales, K. Hyland, 2010, Journal of Inherited Metabolic Disease.

Maternal inheritance and the evaluation of oxidative phosphorylation diseases

J. Shoffner, John M Shoffner, 1996, The Lancet.

Abstracts for the committee on the genetic constitution of the X chromosome (Part 3 of 3)

Brien, J. Beckmann, K. Kidd, 1991 .

Oxidative Phosphorylation Disease: Diagnosis and Pathogenesis

J. Shoffner, 2005 .

Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease.

D. Wallace, M. Lott, J. Shoffner, 1991, JAMA.

Oxidative Phosphorylation Diseases

D. Wallace, J. Shoffner, 1990 .

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

M. Tarnopolsky, J. Shoffner, L. Brady, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Mitochondrial myopathy diagnosis.

J. Shoffner, 2000, Neurologic clinics.

Oxidative Phosphorylation Disease Diagnosis

J. Shoffner, 1999, Seminars in neurology.

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

J. Shoffner, P. Waters, H. Vallance, 2011, American journal of medical genetics. Part A.

MERRF Classification: Implications for Diagnosis and Clinical Trials.

J. Finsterer, J. Shoffner, S. Zarrouk-Mahjoub, 2017, Pediatric neurology.

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

D. Wallace, S. Ballinger, J. Shoffner, 1992, Nature Genetics.

Mitochondrial Myopathies: Genetic Aspects

D. Wallace, S. Ballinger, J. Shoffner, 1994 .

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

C. Epstein, D. Wallace, M. Lott, 1988, Cell.

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

S. Melov, D. Wallace, J. Shoffner, 1995 .

Oxidative damage to mitochondrial DNA shows marked age‐dependent increases in human brain

P. Mecocci, M. Beal, D. Wallace, 1993, Annals of neurology.

Oxidative phosphorylation diseases. Disorders of two genomes.

D. Wallace, J. Shoffner, 1990, Advances in human genetics.

Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives

J. Haines, R. Green, J. Growdon, 1995, Annals of neurology.

Tau pathology in a family with dementia and a P301L mutation in tau.

R A Crowther, J Green, M G Spillantini, 1999, Journal of neuropathology and experimental neurology.

Abnormalities in Gastrointestinal Motility Are Associated With Diseases of Oxidative Phosphorylation in Children

J. Shoffner, S. Nurko, T. Buie, 2003, American Journal of Gastroenterology.

Oxidative phosphorylation defects and Alzheimer's disease

J. Shoffner, 1997, Neurogenetics.

CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism

S. Spence, A. Thurm, C. Farmer, 2016, Neurology.

Mitochondria1 encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

D. Wallace, M. Lott, J. Shoffner, 1995, Neurology.

Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults

M. Tarnopolsky, J. Shoffner, E. Hoffman, 2015, Neuromuscular Disorders.

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

D. Wallace, M. Lott, J. Shoffner, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

M. Beal, D. Wallace, B. Graham, 1995, Neurology.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2017, Genetics in Medicine.

Mitochondrial oxidative phosphorylation defects in parkinson's disease

A. Torroni, D. Wallace, J. Shoffner, 1991, Annals of neurology.

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease.

D. Wallace, M. Lott, J. Shoffner, 1992, Mutation research.

One-Time Intrathecal (IT) Administration of AVXS-101 IT Gene-Replacement Therapy for Spinal Muscular Atrophy: Phase 1 Study (STRONG) (2493)

R. Finkel, T. Crawford, J. Mendell, 2020 .

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains.

M. Beal, D. Wallace, A. McKee, 1994, Genomics.

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

M. Beal, D. Wallace, M. Lott, 1992, Nature Genetics.

Recent advances in mitochondrial genetics

D. Wallace, J. Shoffner, 1994 .

MERRF: a model disease for understanding the principles of mitochondrial genetics.

D. Wallace, M. Lott, J. Shoffner, 1991, Revue neurologique.

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

D. Wallace, M. Brown, J. Shoffner, 1996, Molecular and cellular biology.

Siblings with leukoencephalopathy.

J. Shoffner, G. Breningstall, R. Patterson, 2008, Seminars in pediatric neurology.

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

D. Wallace, J. Shoffner, R. Haas, 1995, Annals of neurology.

Diseases resulting from mitochondrial DNA point mutations

D. Wallace, M. Lott, M. Brown, 1992, Journal of Inherited Metabolic Disease.

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

M. Tarnopolsky, P. Yu-Wai-Man, J. Shoffner, 2017, Journal of Inherited Metabolic Disease.

Mitochondrial DNA Mutations Associated with Neuromuscular Diseases: Analysis and Diagnosis Using the Polymerase Chain Reaction

D. Wallace, M. Lott, J. Shoffner, 1990, Pediatric Research.

Molecular Analysis of Oxidative Phosphorylation Diseases for Detection of Mitochondrial DNA Mutations

J. Shoffner, 1997, Current protocols in human genetics.

Mitochondrial DNA Mutations in Epilepsy and Neurological Disease

D. Wallace, M. Lott, S. Ballinger, 1994, Epilepsia.

Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity?

J. Shoffner, J. Parks, M. Kelijman, 1985, Israel journal of medical sciences.

Subacute necrotizing encephalopathy

D. A. Koontz, P. Fernhoff, N. Newman, 1992, Neurology.

Diseases esulting fro Point Mutations

D. Wallace, M. Lott, J. Shoffner, 1992 .

Mitochondrial DNA mutations in human degenerative diseases and aging.

D. Wallace, M. Lott, S. Ballinger, 1995, Biochimica et biophysica acta.

An Introduction: Oxidative Phosphorylation Diseases

J. Shoffner, 2001, Seminars in neurology.

kber's Hereditary Optic Neuropathy Plus Dystonia

J. Shoffner, A. Jun, J. Dixon, 2004 .

Mitochondrial Myopathies: Genetic Aspects

D. Wallace, S. Ballinger, J. Shoffner, 1994 .

Abstracts for the committee on the genetic constitution of chromosome 6

Brien, J. Beckmann, K. Kidd, 1991 .

Abstracts for the committee on comparative gene mapping

Brien, J. Beckmann, K. Kidd, 1991 .

Mitochondrial oxidative phosphorylation defects in Parkinson's disease

A. Torroni, D. Wallace, J. Shoffner, 1992, Annals of neurology.

Abstracts for the committee on the genetic constitution of chromosome 15

Brien, J. Beckmann, K. Kidd, 1991 .

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

M. Tarnopolsky, J. Shoffner, L. Brady, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Retrospective analysis of small cohorts does not support therapeutic efficacy of l-arginine

J. Shoffner, 2018, Molecular genetics and metabolism reports.