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Gut-Associated Plasmacytoid Dendritic Cells Display an Immature Phenotype and Upregulated Granzyme B in Subjects with HIV/AIDS

Frontiers in immunology, 2015-09, Vol.6, p.485-485

2015

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Cytokine expression provides clues to the pathophysiology of Gulf War illness and myalgic encephalomyelitis

Cytokine (Philadelphia, Pa.), 2015-03, Vol.72 (1), p.1-8

2015

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Deficiency of mitochondrial ATP synthase of nuclear genetic origin

Neuromuscular disorders : NMD, 2006-12, Vol.16 (12), p.821-829

2006

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Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

Biochemical and biophysical research communications, 2000-08, Vol.275 (1), p.63-68

2000

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EPNS Newsletter, Editor L de Meirleir1More news from the board meeting in Southampton May 2001

European journal of paediatric neurology, 2001-09, Vol.5 (5), p.220

DEMEIRLEIR, L

2001

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EPNS NewsletterGUIDELINES AND PROCEDURES FOR APPLICATIONS TO HOST A SCIENTIFIC MEETING OF THE EPNS

European journal of paediatric neurology, 2001-07, Vol.5 (4), p.189-190

DEMEIRLEIR, L

2001

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EPNS NewsletterMORE EPNS NEWS AFTER THE SOUTHAMPTON BOARD MEETING 11–12 May 2001

European journal of paediatric neurology, 2001-07, Vol.5 (4), p.188

DEMEIRLEIR, L

2001

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Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

Pediatric neurology, 1995-10, Vol.13 (3), p.242-246

1995

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Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Human genetics, 1997-06, Vol.99 (6), p.785-792

1997

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Pearson marrow pancreas syndrome: a molecular study and clinical management

Clinical genetics, 1997-05, Vol.51 (5), p.338-342

1997

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A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

Journal of inherited metabolic disease, 1996-01, Vol.19 (2), p.115-118

1996

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Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1α subunit

Human genetics, 1992-03, Vol.88 (6), p.649-652

1992

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Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease

The Journal of pediatrics, 1987-02, Vol.110 (2), p.216-222

1987

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Pyruvate dehydrogenase deficiency: Clinical and biochemical diagnosis

Pediatric neurology, 1993-05, Vol.9 (3), p.216-220

1993

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Acrodermatitis enteropathica–like cutaneous lesions in organic aciduria

The Journal of pediatrics, 1994-03, Vol.124 (3), p.416-420

1994

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Neuropathological findings of a patient with pyruvate dehydrogenase E1α deficiency presenting as a cerebral lactic acidosis

Acta neuropathologica, 1993-05, Vol.85 (6), p.674-678

1993

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Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex

The Journal of biological chemistry, 1988-02, Vol.263 (4), p.1991-1995

1988

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E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy

Pediatric research, 1993-03, Vol.33 (3), p.284-288

1993

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Acrodermatitis-like syndrome in organic aciduria

Pediatrics (Evanston), 1994-03, Vol.93 (3), p.537

1994

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Pediatric research, 1990-09, Vol.28 (3), p.247-255

1990

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Pseudallescheria boydii and brain abscesses

The Pediatric infectious disease journal, 1990-10, Vol.9 (10), p.737-741

1990

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Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene

Human molecular genetics, 1995-02, Vol.4 (2), p.307-308

1995

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Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy

Journal of inherited metabolic disease, 1996-01, Vol.19 (6), p.795-796

1996

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Importance of sequence analysis in NARP syndrome

Journal of inherited metabolic disease, 1995-01, Vol.18 (1), p.97-98

1995

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Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

Journal of inherited metabolic disease, 1992-01, Vol.15 (3), p.323-326

1992

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Gut-Associated Plasmacytoid Dendritic Cells Display an Immature Phenotype and Upregulated Granzyme B in Subjects with HIV/AIDS

Cytokine expression provides clues to the pathophysiology of Gulf War illness and myalgic encephalomyelitis

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

EPNS Newsletter, Editor L de Meirleir1More news from the board meeting in Southampton May 2001

EPNS NewsletterGUIDELINES AND PROCEDURES FOR APPLICATIONS TO HOST A SCIENTIFIC MEETING OF THE EPNS

EPNS NewsletterMORE EPNS NEWS AFTER THE SOUTHAMPTON BOARD MEETING 11–12 May 2001

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Pearson marrow pancreas syndrome: a molecular study and clinical management

A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1α subunit

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease

Pyruvate dehydrogenase deficiency: Clinical and biochemical diagnosis

Acrodermatitis enteropathica–like cutaneous lesions in organic aciduria

Neuropathological findings of a patient with pyruvate dehydrogenase E1α deficiency presenting as a cerebral lactic acidosis

Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex

E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy

Acrodermatitis-like syndrome in organic aciduria

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Pseudallescheria boydii and brain abscesses

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene

Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy

Importance of sequence analysis in NARP syndrome

Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

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