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Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

Mitochondrion, 2009-09, Vol.9 (5), p.331-339

2009

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The wide POLG -related spectrum: An integrated view

Journal of the neurological sciences, 2016-09, Vol.368, p.70-76

2016

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A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

Molecular and cellular probes, 1996-10, Vol.10 (5), p.389-391

1996

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NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy

Neurology, 2007-04, Vol.68 (17), p.1429

2007

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Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of leigh syndrome

The Journal of pediatrics, 1997-09, Vol.131 (3), p.447-449

1997

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Quantification of OXPHOS Gene Transcripts during Muscle Cell Differentiation in Patients with Mitochondrial Myopathies

Experimental cell research, 1999-01, Vol.246 (1), p.91-97

1999

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Le MNGIE syndrome: deux cas dans une même fratrie

Revue neurologique (Paris), 1997, Vol.153 (10), p.547-553

1997

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Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency

Pediatric research, 1994-11, Vol.36 (5), p.582-588

1994

Volltextzugriff (PDF)

P199 - Un déficit fonctionnel de la translocation intramitochondriale des acides gras

Diabetes & metabolism, 2011, Vol.37 (1), p.A81-A81

2011

Volltextzugriff (PDF)

2‐Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case

Journal of inherited metabolic disease, 1993-09, Vol.16 (5), p.821-830

1993

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Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion

Neuromuscular disorders : NMD, 1993-01, Vol.3 (5), p.561-566

1993

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P120 Diabète associé à une cytopathie mitochondriale à transmission autosomique dominante. À propos d’un cas de mutation du gène nucléaire Twinkle

Diabetes & metabolism, 2009, Vol.35, p.A56-A56

2009

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Quantification of Mitochondrial DNA Deletion, Depletion, and Overreplication: Application to Diagnosis

Clinical chemistry (Baltimore, Md.), 2003-08, Vol.49 (8), p.1309-1317

2003

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Syndrome « MELAS » à expression vasculaire pure ?

Revue neurologique (Paris), 1997, Vol.153 (10), p.591-594

1997

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An abnormal exercise test response revealing a respiratory chain complex III deficiency

Acta neurologica Scandinavica, 1995-06, Vol.91 (6), p.488-493

1995

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Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis

Journal of hepatology, 1999, Vol.30 (1), p.149-155

1999

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Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

European journal of pediatrics, 1993-04, Vol.152 (4), p.334-338

1993

Volltextzugriff (PDF)

Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia

Molecular and cellular probes, 1995-06, Vol.9 (3), p.207-214

1995

Volltextzugriff (PDF)

Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness

Biochimica et biophysica acta, 2002-12, Vol.1588 (3), p.210-216

2002

Volltextzugriff (PDF)

Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset

Journal of inherited metabolic disease, 1995-05, Vol.18 (3), p.362-363

1995

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Serum 5'-nucleotidase and alkaline phosphatase activities after high dose chemotherapy and bone marrow transplantation in cases of malignancy in children

Annales de biologie clinique (Paris), 1995, Vol.53 (3), p.125

1995

Volltextzugriff (PDF)

Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness : Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively

The journal of clinical endocrinology and metabolism, 1997-09, Vol.82 (9), p.3063-3067

1997

Volltextzugriff (PDF)

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications

La revue de medecine interne, 2002-12, Vol.23 (12), p.1027-1029

2002

Volltextzugriff (PDF)

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

The Journal of clinical investigation, 1999-07, Vol.104 (1), p.83-92

1999

Volltextzugriff (PDF)

Human cultured myoblasts: A model for the diagnosis of mitochondrial diseases

Journal of inherited metabolic disease, 1993-05, Vol.16 (3), p.545-547

1993

Volltextzugriff (PDF)

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Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

The wide POLG -related spectrum: An integrated view

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy

Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of leigh syndrome

Quantification of OXPHOS Gene Transcripts during Muscle Cell Differentiation in Patients with Mitochondrial Myopathies

Le MNGIE syndrome: deux cas dans une même fratrie

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency

P199 - Un déficit fonctionnel de la translocation intramitochondriale des acides gras

2‐Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case

Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion

P120 Diabète associé à une cytopathie mitochondriale à transmission autosomique dominante. À propos d’un cas de mutation du gène nucléaire Twinkle

Quantification of Mitochondrial DNA Deletion, Depletion, and Overreplication: Application to Diagnosis

Syndrome « MELAS » à expression vasculaire pure ?

An abnormal exercise test response revealing a respiratory chain complex III deficiency

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis

Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia

Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness

Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset

Serum 5'-nucleotidase and alkaline phosphatase activities after high dose chemotherapy and bone marrow transplantation in cases of malignancy in children

Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness : Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (Melas) associated with a Fahr disease and cerebellar calcifications

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

Human cultured myoblasts: A model for the diagnosis of mitochondrial diseases

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