Arnold Munnich

发表

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

P. Bénit, A. Munnich, P. Rustin, 2001, American journal of human genetics.

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

A. Munnich, A. Rötig, A. Rotig, 1989, The Lancet.

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

B. Roe, A. Munnich, E. Génin, 2000, The Journal of clinical investigation.

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.

A. Munnich, P. Rustin, A. Rötig, 1995, The Journal of pediatrics.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

A. Munnich, M. Teitell, A. Rötig, 2018, Nature.

Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation.

A. Munnich, P. Rustin, A. Rötig, 1997, The Journal of pediatrics.

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

A. Smahi, C. Bodemer, A. Munnich, 2012, The British journal of dermatology.

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

C. Guyot, D. Chrétien, Y. Keyzer, 2008, Molecular genetics and metabolism.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

A Vassault, A. Munnich, P. Rustin, 1992, The Journal of pediatrics.

Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency

A. Munnich, G. Rutter, A. Rötig, 2010, Cell Death and Differentiation.

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

A. Munnich, P. Rustin, A. Rötig, 2001, Human molecular genetics.

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

A. Munnich, N. Boddaert, F. Brunelle, 2014, Journal of Medical Genetics.

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1998, American journal of human genetics.

High incidence of SHOX anomalies in individuals with short stature

A. Munnich, V. Cormier-Daire, C. Huber, 2006, Journal of Medical Genetics.

Clinical spectrum and diagnosis of mitochondrial disorders.

A. Munnich, P. Rustin, Pierre Rustin, 2001, American journal of medical genetics.

Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

A. Munnich, N. Philip, H. Van Esch, 2006, Clinical genetics.

Features of DiGeorge syndrome and CHARGE association in five patients.

A. Munnich, S. Lyonnet, M. Vekemans, 1997, Journal of medical genetics.

Mitochondrial DNA inheritance in patients with deleted mtDNA

T. Bourgeron, A. Munnich, P. Rustin, 2001 .