J. Lunardi

J. Cesbron, N. Monnier, J. Lunardi, 2009, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

G. Danieli, L. Faivre, J. Rendu, 2011, Human mutation.

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.

J. Y. Kuwada, J. Dowling, J. Hur, 2012, Brain : a journal of neurology.

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

P. Jouk, N. Monnier, J. Lunardi, 1999, American journal of human genetics.

Reproductive genetics MLPA and sequence analysis of DPY 19 L 2 reveals point mutations causing globozoospermia

P. Jouk, F. Abada, P. Ray, 2012 .

A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family

N. Monnier, J. Lunardi, G. Gauthier, 2001, Journal of medical genetics.

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

J. Deharo, P. Cosnay, E. Donal, 2014, Heart rhythm.

Progress in the definition of a reference human mitochondrial proteome

P. Lescuyer, A. van Dorsselaer, T. Rabilloud, 2003, Proteomics.

Oxidative stress and successful antioxidant treatment in models of RYR 1-related myopathy

J. Y. Kuwada, J. Dowling, J. Hur, 2012 .

Congenital myopathy with focal loss of cross-striations revisited

M. Swash, E. Aronica, N. Voermans, 2013, Neuromuscular Disorders.

This information is current as Regulatory T Cells Differentiation , Memory B Cells , and Impairments in Dendritic Cell Human C 3 Deficiency Associated with Gerlier and

D. Gerlier, N. Monnier, J. Lunardi, 2008 .

Comparative proteomics as a new tool for exploring human mitochondrial tRNA disorders.

C. Florentz, R. Giegé, A. van Dorsselaer, 2002, Biochemistry.

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

N. Monnier, J. Lunardi, K. Keating, 1994, Genomics.

[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].

N. Monnier, J. Lunardi, L. Chabraoui, 2006, Annales de biologie clinique.

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

J. Lunardi, G. Gacon, V. Satre, 2005, Human molecular genetics.

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.

J. Lunardi, G. Gacon, V. Satre, 2003, Human molecular genetics.

Mutations in OCRL1 gene in Indian children with Lowe syndrome

A. Bagga, J. Lunardi, N. Gupta, 2008, Clinical and Experimental Nephrology.

Adenine nucleotide binding sites in chemically modified F1‐ATPase

J. Lunardi, J. Lunardi, P. Vignais, 1979, FEBS letters.

CHEM(ICAL PROBES OF THE 1\t1ITOCHONDRIAL ATP SYNT:HESIS AND TRANSLOCATION !

J. Lunardi, P. Vignais, 1985 .

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

N. Romero, V. Fowler, S. Quijano-roy, 2012, Human molecular genetics.

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

K. Claeys, N. Romero, I. Husson, 2011, European journal of medical genetics.

New zwitterionic detergents improve the analysis of membrane proteins by two‐dimensional electrophoresis

D. Rouquié, J. Garin, V. Santoni, 1998, Electrophoresis.

Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.

J. Lunardi, P. Guicheney, I. Denjoy, 2011, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

A. Leenhardt, V. Probst, P. Ray, 2012, Human molecular genetics.

YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit.

P. Lescuyer, J. Lunardi, P. Martinez, 2002, Biochimica et biophysica acta.

The 49‐kDa subunit of NADH‐ubiquinone oxidoreductase (Complex I) is involved in the binding of piericidin and rotenone, two quinone‐related inhibitors

J. Lunardi, J. Issartel, E. Darrouzet, 1998, FEBS letters.

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

H. Smeets, V. Procaccio, G. Putet, 1999, The Journal of clinical investigation.

Structure, Function and Pathology of Complex I

V. Procaccio, J. Lunardi, J. Issartel, 1999 .

The ATP synthase (F0−F1) complex in oxidative phosphorylation

J. Garin, J. Lunardi, J. Issartel, 1992, Experientia.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

P. De Camilli, Livia Tomasini, J. Lunardi, 2010, Proceedings of the National Academy of Sciences.

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

R. Salomon, J. Lunardi, T. Mirault, 2010, British journal of haematology.

Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression

N. Romero, J. Lunardi, M. Fardeau, 1993, Neuromuscular Disorders.

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

P. Jouk, S. Viville, P. Ray, 2009, Human molecular genetics.

[Function of aurora kinase C (AURKC) in human reproduction].

P. Ray, J. Lunardi, R. Zouari, 2009, Gynécologie Obstétrique & Fertilité.

Antenatal diagnosis of Lowe syndrome

A. Bagga, M. Kabra, J. Lunardi, 2010, Clinical and Experimental Nephrology.

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

N. Romero, P. Landrieu, N. Monnier, 2001, Human molecular genetics.

Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies

K. Parain, N. Romero, J. Leroy, 2007, Journal of neuropathology and experimental neurology.

Potential use of radiolabeled antisense oligonucleotides in oncology.

D. Fagret, J. Lunardi, A. Gauchez, 1999, Anticancer research.

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia

Amy D. Hanna, S. Hamilton, E. Lefai, 2018, Genetics in Medicine.

The mitochondrial antioxidant defence system and its response to oxidative stress

R. Aebersold, T. Rabilloud, J. Lunardi, 2001, Proteomics.

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy

M. Abramowicz, N. Monnier, J. Lunardi, 2015, Neuromuscular Disorders.

C.P.1.13 A homozygous null mutation in TPM2 gene causes autosomal recessive nemaline myopathy associated with multiple pterygia

P. Mezin, P. Jouk, N. Monnier, 2007, Neuromuscular Disorders.

Detection of chemoresistance profile of cell lines K562, KB, GLC4 and HL60 through characterisation of the hmdr1, mrp and lrp transcripts.

D. Fagret, J. Lunardi, D. Marti-Battle, 2001, In vivo.

Triadins Are Not Triad-specific Proteins

A. Chapel, S. Vassilopoulos, J. Brocard, 2005, Journal of Biological Chemistry.

Exploration of δ‐subunit interactions in beef heart mitochondrial F1 ‐ATPase by monoclonal antibodies

J. Grassi, J. Lunardi, Y. Frobert, 1989, FEBS letters.

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

J. Deharo, P. Cosnay, E. Donal, 2014, Heart rhythm.

An appraisal of the functional significance of the inhibitory effect of long chain acyl‐CoAs on mitochondrial transports

J. Duszyński, G. Lauquin, F. Morel, 1974, FEBS letters.

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

N. Romero, B. Gilbert-Dussardier, L. García, 2013, Human gene therapy.

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

N. Romero, L. Viollet, P. Laforêt, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.

P. Jouk, S. Viville, F. Abada, 2011, American journal of human genetics.

Fluoroaluminum and Fluoroberyllium Complexes as Probes of the Catalytic Sites of Mitochondrial F1-ATPase

J. Garin, J. Lunardi, J. Issartel, 1992 .

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

R. Salomon, J. Rendu, B. Ranchin, 2011, Human mutation.