A. Slama

发表

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

J. Mazat, J. Lunardi, M. Malgat, 2009, Mitochondrion.

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

P. Bénit, P. Rustin, A. Legrand, 2012, Molecular genetics and metabolism.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

V. Desquiret-Dumas, E. Colin, D. Bonneau, 2014, Brain : a journal of neurology.

Sex differences in brain mitochondrial metabolism: influence of endogenous steroids and stroke

M. Schumacher, A. Slama, P. Gaignard, 2018, Journal of neuroendocrinology.

Mutation in the AGK gene in two siblings with unusual Sengers syndrome

O. Boespflug-Tanguy, C. Sarret, A. Slama, 2017, Metabolic Brain Disease.

Respiratory chain defects may present only with hypoglycemia.

P. Rustin, F. Mochel, D. Rabier, 2005, The Journal of clinical endocrinology and metabolism.

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

L. Christa, C. Barnérias, I. Desguerre, 2018, Journal of Inherited Metabolic Disease.

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

C. Genestie, S. Richard, Y. Allory, 2017, Clinical genetics.

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

P. Bénit, J. Harper, J. Paulo, 2016, eLife.

Defects in activation and transport of fatty acids

D. Rabier, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

S. Pande, J. Saudubray, A. Slama, 1993, The Journal of clinical investigation.

Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues

P. Rustin, A. Rötig, C. Lacroix, 1999, The Lancet.

Effect of Sex Differences on Brain Mitochondrial Function and Its Suppression by Ovariectomy and in Aged Mice.

M. Schumacher, A. Slama, P. Gaignard, 2015, Endocrinology.

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

C. Lacroix, P. Laforêt, B. Messing, 2005, Molecular genetics and metabolism.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A. Munnich, D. Galanaud, N. Boddaert, 2010, Journal of Medical Genetics.

Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction?

A. Munnich, P. Rustin, B. Mégarbane, 2000, Journal of hepatology.

Recognition and management of fatty acid oxidation defects: A series of 107 patients

D. Rabier, P. Kamoun, J. Saudubray, 1999, Journal of Inherited Metabolic Disease.

Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells.

A. Paci, E. Baudin, Jacques Young, 2013, Endocrine-related cancer.

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.

A. Slama, A. Cano, B. Chabrol, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Comparative effects of diabetes and monensin on the lectin asialoglycoprotein receptor: biosynthesis, structure and function in rats.

J. Féger, A. Slama, J. Agneray, 1992, Biochimie.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

A. Rötig, I. Durand-zaleski, C. Florentz, 2013, Journal of Medical Genetics.

Increased susceptibility to liver fibrosis with age is correlated with an altered inflammatory response.

B. Fromenty, A. Slama, C. Mitchell, 2011, Rejuvenation research.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

Effect of streptozotocin‐diabetes on rat liver asialoglycoprotein receptor turnover: in vivo degradation and in vitro biosynthesis

J. Féger, E. Couderc, M. Appel, 1990 .

MFN2, a new gene responsible for mitochondrial DNA depletion.

P. Amati‐Bonneau, P. Reynier, D. Rodriguez, 2012, Brain : a journal of neurology.

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.

S. Lyonnet, À. García‐Cazorla, A. Legrand, 2003, Molecular genetics and metabolism.

Carboplatin: a new cause of severe type B lactic acidosis secondary to mitochondrial DNA damage.

A. Slama, F. Jacobs, D. Prat, 2011, The American journal of emergency medicine.

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

A. Imbard, A. Slama, Z. Demir, 2020, Molecular genetics and metabolism.

Mitochondrial dysfunction caused by novel ATAD3A mutations.

T. Wai, A. Gelot, N. Dorison, 2020, Molecular genetics and metabolism.

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

O. Boespflug-Tanguy, P. de Lonlay, A. Slama, 2017, Molecular genetics and metabolism.

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

C. Sardet, N. Boddaert, P. de Lonlay, 2014, Mitochondrion.

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

A. Rötig, A. Slama, E. Jacquemin, 2014, JIMD reports.

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

A. Slama, E. Jacquemin, P. Gaignard, 2013, JIMD reports.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

L. Thomas, S. Richard, B. Teh, 2011, Journal of Medical Genetics.

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.

A. Legrand, P. Landrieu, A. Slama, 2010, Molecular genetics and metabolism.

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

A. Legrand, P. Landrieu, A. Slama, 2009, Molecular genetics and metabolism.

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

D. Bonneau, P. Amati‐Bonneau, P. Reynier, 2008, Diabetes & metabolism.

Decylubiquinol impedes mitochondrial respiratory chain complex I activity

P. Bénit, P. Rustin, A. Slama, 2008, Molecular and Cellular Biochemistry.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

A. Munnich, A. Rötig, V. Cormier-Daire, 2007, The Journal of pediatrics.

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

A. Munnich, A. Rötig, D. Rodriguez, 2007, Molecular genetics and metabolism.

Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects

Hoon-Chul Kang, H. Kim, A. Slama, 2007, Epilepsia.

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

P. Rustin, À. García‐Cazorla, D. Rabier, 2006, The Journal of pediatrics.

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.

A. Munnich, P. Rustin, A. Rötig, 2005, Molecular genetics and metabolism.

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.

P. Bénit, P. Rustin, Malgorzata Rak, 2012, Molecular genetics and metabolism.

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.

Robert W. Taylor, A. Slama, A. Lèbre, 2016, Free radical biology & medicine.

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

D. Millington, C. Roe, A. Legrand, 1996, Journal of Inherited Metabolic Disease.

[Mitochondrial neurogastrointestinal encephalopathy disease].

F. Rivier, N. Leboucq, A. Slama, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

A. Amiot, B. Messing, C. Jardel, 2009, Gastroenterology.

The Lack of Antitumor Effects of o,p′DDA Excludes Its Role as an Active Metabolite of Mitotane for Adrenocortical Carcinoma Treatment

A. Paci, E. Baudin, Jacques Young, 2014, Hormones and Cancer.

Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration

C. Genestie, S. Richard, J. Salleron, 2018, Modern Pathology.

New spastic paraplegia phenotype associated to mutation of NFU1

M. Elmaleh, L. Vallée, A. Imbard, 2015, Orphanet Journal of Rare Diseases.

Clinical and biochemical heterogeneity associated with fumarase deficiency

A. Munnich, N. Boddaert, T. Frebourg, 2011, Human mutation.

Rapid Diagnosis of Long Chain and Medium Chain Fatty Acid Oxidation Disorders Using Lymphocytes

A. Legrand, J. Saudubray, A. Slama, 1995, Annals of clinical biochemistry.

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

A. Legrand, A. Slama, J. M. Costa, 2003, Molecular genetics and metabolism.

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

A. Legrand, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

Comparative determination of the asialoglycoprotein receptor by ligand and antibody binding in hepatocytes from normal and diabetic rats

J. Féger, A. Slama, M. Dodeur, 1988, Biology of the cell.

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase.

D. Turnbull, M. Pourfarzam, M. Brivet, 1995, The Journal of pediatrics.

Role of Sex Hormones on Brain Mitochondrial Function, with Special Reference to Aging and Neurodegenerative Diseases

M. Schumacher, A. Slama, P. Gaignard, 2017, Front. Aging Neurosci..

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

N. Ashley, M. Zeviani, R. Naviaux, 2007, Human molecular genetics.

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

A. Munnich, A. Rötig, J. N. Spelbrink, 2007, Annals of neurology.

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

A. Munnich, N. Boddaert, A. Rötig, 2009, Molecular genetics and metabolism.

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia

A. Slama, P. Gaignard, P. Thérond, 2017, Journal of Human Genetics.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

P. Rustin, A. Legrand, J. Saudubray, 2003, Human Genetics.

NADPH oxidase is the major source of placental superoxide in early pregnancy: association with MAPK pathway activation

A. Slama, J. Beaudeux, T. Fournier, 2019, Scientific Reports.

Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health

D. Boichard, L. Helary, C. Péchoux, 2017, PLoS genetics.

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy

T. Wai, A. Slama, P. Gaignard, 2022, Brain : a journal of neurology.

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

P. Bénit, A. Munnich, P. Rustin, 2004, Journal of Medical Genetics.

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

F. Sedel, I. Nelson, S. Allouche, 2014, Mitochondrion.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation

C. Lacroix, B. Messing, C. Matuchansky, 2005, Journal of Neurology.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Long-term liver disease in methylmalonic and propionic acidemias.

A. Imbard, G. Touati, A. Slama, 2018, Molecular genetics and metabolism.

Mitochondrial myopathy associated with anti-programmed cell death 1 therapy.

C. Robert, A. Slama, C. Adam, 2019, European journal of cancer.

The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers

P. Rustin, A. Legrand, A. Slama, 2004, European Journal of Human Genetics.

Intranasal administration of progesterone: A potential efficient route of delivery for cerebroprotection after acute brain injuries

M. Schumacher, C. Mattern, A. Slama, 2019, Neuropharmacology.

Progesterone reduces brain mitochondrial dysfunction after transient focal ischemia in male and female mice

M. Schumacher, C. Mattern, A. Slama, 2016, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Association of the CAG repeat polymorphism in mitochondrial polymerase gamma (POLG1) with male infertility: a case-control study in an Algerian population.

D. Satta, A. Slama, N. Abadi, 2021, African journal of reproductive health.

Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.

L. Servais, A. Slama, M. Schiff, 2016, JIMD reports.

Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions

Hoon-Chul Kang, H. Kim, A. Slama, 2008, Epilepsia.

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

P. Laforêt, B. Eymard, F. Mochel, 2019, Revue neurologique.

Revisiting Pitfalls, Problems and Tentative Solutions for Assaying [General Articles] Mitochondrial Respiratory Chain Complex III in Human Samples

A. Munnich, P. Rustin, A. Rötig, 2004 .

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

I. Desguerre, B. Aral, A. Slama, 2003, Annals of neurology.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

Pe rsistent mitochondrial dysfunction and perinatal exposure to a n t i r e t r oviral nucleoside analogues

C. Lacroix, C. Rouzioux, L. Mandelbrot, 1999 .

Steroids in Stroke with Special Reference to Progesterone

M. Schumacher, Xiaoyan Zhu, A. Slama, 2018, Cellular and Molecular Neurobiology.

Mitochondrial Respiratory Chain Deficiency Revealed by Hypothermia

S. Peudenier, M. Tardieu, A. Slama, 2001, Neuropediatrics.

Steroids in Stroke with Special Reference to Progesterone

M. Schumacher, Xiaoyan Zhu, A. Slama, 2018, Cellular and Molecular Neurobiology.

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

P. Rustin, N. Laing, J. Christodoulou, 2013, American journal of human genetics.

Complementation Analysis of Carnitine Palmitoyltransferase I and II Defects

A. Legrand, J. Saudubray, A. Slama, 1996, Pediatric Research.

Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells.

A. Paci, E. Baudin, Jacques Young, 2013, Endocrine-related cancer.