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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Genetics in medicine, 2015-09, Vol.17 (9), p.689-701

2015

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CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Epilepsia (Copenhagen), 2019-08, Vol.60 (8), p.1733-1742

2019

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Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

Nature communications, 2021-11, Vol.12 (1), p.6809-6809, Article 6809

2021

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Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome

American journal of hematology, 2023-12, Vol.98 (12), p.E376-E379

2023

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The Hiccup

Journal of child neurology, 2023-05, Vol.38 (6-7), p.478-478

Parikh, Sumit

2023

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Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

JIMD reports, 2023-09, Vol.64 (5), p.375-386

2023

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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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Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia

PloS one, 2024-01, Vol.19 (1), p.e0294443-e0294443

2024

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A modern approach to the treatment of mitochondrial disease

Current treatment options in neurology, 2009-11, Vol.11 (6), p.414-430

2009

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Mitochondrial disease: a practical approach for primary care physicians

Pediatrics (Evanston), 2007-12, Vol.120 (6), p.1326

2007

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Diagnosis of 'possible' mitochondrial disease: an existential crisis

Journal of medical genetics, 2019-03, Vol.56 (3), p.123

2019

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The in-depth evaluation of suspected mitochondrial disease

Molecular genetics and metabolism, 2008-05, Vol.94 (1), p.16-37

2008

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Development of an Objective Autism Risk Index Using Remote Eye Tracking

Journal of the American Academy of Child and Adolescent Psychiatry, 2016-04, Vol.55 (4), p.301-309

2016

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A physician targeted intervention improves prescribing in chronic heart failure in general medical units

BMC health services research, 2018-03, Vol.18 (1), p.206-206, Article 206

2018

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Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Annals of clinical and translational neurology, 2016-02, Vol.3 (2), p.114-123

2016

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Neurologic Disorders Due to Mitochondrial DNA Mutations

Seminars in pediatric neurology, 2012-12, Vol.19 (4), p.194-202

2012

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Approach to the Diagnosis and Treatment of Cyclic Vomiting Syndrome: A Large Single-Center Experience With 106 Patients

Pediatric neurology, 2014-06, Vol.50 (6), p.569-573

2014

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Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Annals of clinical and translational neurology, 2024-05, Vol.11 (5), p.1301-1309

2024

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Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis

1, 2015

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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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Autonomic Dysfunction in Epilepsy and Mitochondrial Diseases

Seminars in pediatric neurology, 2013-03, Vol.20 (1), p.31-34

2013

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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

JIMD reports, 2020-11, Vol.56 (1), p.70-81

2020

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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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The Australian experience with switching to extended half‐life factor VIII and IX concentrates: On behalf of the Australian Haemophilia Centre Directors' Organisation

Haemophilia : the official journal of the World Federation of Hemophilia, 2020-05, Vol.26 (3), p.529-535

2020

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome

The Hiccup

Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

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

Registry-derived stage (RD-Stage) for capturing stage at diagnosis for pancreatic carcinoma in Australia

A modern approach to the treatment of mitochondrial disease

Mitochondrial disease: a practical approach for primary care physicians

Diagnosis of 'possible' mitochondrial disease: an existential crisis

The in-depth evaluation of suspected mitochondrial disease

Development of an Objective Autism Risk Index Using Remote Eye Tracking

A physician targeted intervention improves prescribing in chronic heart failure in general medical units

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Neurologic Disorders Due to Mitochondrial DNA Mutations

Approach to the Diagnosis and Treatment of Cyclic Vomiting Syndrome: A Large Single-Center Experience With 106 Patients

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis

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

Autonomic Dysfunction in Epilepsy and Mitochondrial Diseases

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

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

The Australian experience with switching to extended half‐life factor VIII and IX concentrates: On behalf of the Australian Haemophilia Centre Directors' Organisation

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