S. Lefebvre

发表

Identification and characterization of a spinal muscular atrophy-determining gene

J. Weissenbach, D. Paslier, A. Munnich, 1995, Cell.

Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy

S. Lefebvre, P. Burlet, J. Bureau, 2018, Scientific Reports.

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.

A. Munnich, J. Melki, S. Lefebvre, 1997, American journal of human genetics.

The interaction of two groups of murine genes determines the persistence of Theiler's virus in the central nervous system

J. Guénet, S. Lefebvre, X. Montagutelli, 1992, Journal of virology.

Isolation from human brain of six previously unreported cDNAs related to the reverse transcriptase of human endogenous retroviruses.

F. Tekaia, S. Lefebvre, M. Brahic, 1995, AIDS research and human retroviruses.

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

A. Munnich, J. Melki, A. Verloes, 1996, The Journal of clinical investigation.

Collagen XXV promotes myoblast fusion during myogenic differentiation and muscle formation

T. Iwatsubo, S. Lefebvre, T. Wakabayashi, 2019, Scientific Reports.

Structure and organization of the human survival motor neurone (SMN) gene.

A. Munnich, J. Melki, C. Cruaud, 1996, Genomics.

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.

J. Weissenbach, J. McPherson, D. Le Paslier, 1994, American journal of human genetics.

cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

A. Munnich, J. Melki, J. Guénet, 1997, Genomics.

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.

A. Munnich, S. Lefebvre, P. Burlet, 2002, Human molecular genetics.

SMN gene deletions in adult-onset spinal muscular atrophy

Arnold Munnich, A. Munnich, J. Melki, 1995, The Lancet.

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

A. Munnich, J. Melki, C. Cruaud, 1995, Nature Genetics.

A link between agrin signalling and Cav3.2 at the neuromuscular junction in spinal muscular atrophy

S. Lefebvre, M. De Waard, Delphine Sapaly, 2022, Scientific Reports.

Further characterization of the photoreaction center from Ectothiorhodospira sp. detection of the H subunit by monoclonal antibodies

S. Lefebvre, R. Picorel, G. Gingras, 1989 .

Detection of heterozygousSMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

N. Drouot, A. Munnich, T. Frebourg, 2001, Journal of medical genetics.

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.

A. Munnich, J. Roume, S. Lefebvre, 1998, Human molecular genetics.

Photoreaction center of Ectothiorhodospira sp. Pigment, heme, quinone, and polypeptide composition

S. Lefebvre, R. Picorel, G. Gingras, 1984 .

Oxido-reduction of B800-850 and B880 holochromes isolated from three species of photosynthetic bacteria as studied by electron-paramagnetic resonance and optical spectroscopy.

S. Lefebvre, R. Picorel, G. Gingras, 1984, European journal of biochemistry.

Mapping loci influencing the persistence of Theiler's virus in the murine central nervous system

J. Guénet, F. Bihl, S. Lefebvre, 1993, Nature Genetics.

A role for protein phosphatase PP1&ggr; in SMN complex formation and subnuclear localization to Cajal bodies

S. Lefebvre, P. Burlet, Gwendoline Quérol, 2012, Journal of Cell Science.

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

A. Munnich, J. Melki, S. Lefebvre, 1996, Journal of medical genetics.

Correlation between severity and SMN protein level in spinal muscular atrophy

Arnold Munnich, A. Munnich, G. Dreyfuss, 1997, Nature Genetics.

Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).

S. Lefebvre, C. Sarret, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

S. Lefebvre, F. Dumont, F. Letourneur, 2020, Frontiers in Molecular Biosciences.

Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy

S. Lefebvre, P. Burlet, J. Bureau, 2018, Scientific Reports.

Implication of the SMN complex in the biogenesis and steady state level of the Signal Recognition Particle

S. Lefebvre, R. Bordonné, A. Méreau, 2012, Nucleic acids research.

The role of the SMN gene in proximal spinal muscular atrophy.

J. Melki, S. Lefebvre, L. Bürglen, 1998, Human molecular genetics.

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

D. Le Paslier, D. Paslier, M. Zeviani, 1994, Science.

Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells

S. Lefebvre, L. Viollet, M. Gendron, 2006, Journal of Cell Science.

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.

A. Munnich, D. Thierry-Mieg, S. Lefebvre, 1999, Human molecular genetics.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

A. Munnich, K. Bushby, R. Adams, 2002, Annals of neurology.

SMN gene deletion in variant of infantile spinal muscular atrophy

A. Munnich, J. Melki, S. Lefebvre, 1995, The Lancet.

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy.

S. Lefebvre, P. Burlet, L. Viollet, 2009, Human molecular genetics.

Werdnig-Hoffmann disease

A. Munnich, J. Melki, S. Lefebvre, 2004 .

A new role for the calcineurin/NFAT pathway in neonatal myosin heavy chain expression via the NFATc2/MyoD complex during mouse myogenesis

S. Lefebvre, Anne-Sophie Armand, S. Lécolle, 2013, Development.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

A. Munnich, F. Renault, S. Lefebvre, 2006, Neurology.

Dephosphorylation of Neurofilaments by Exogenous Phosphatases Has No Effect on Reassembly of Subunits

S. Lefebvre, E. Georges, W. Mushynski, 1986, Journal of neurochemistry.

Characterization of the cation-binding properties of porcine neurofilaments.

S. Lefebvre, W. Mushynski, 1988, Biochemistry.

Calcium binding to untreated and dephosphorylated porcine neurofilaments.

S. Lefebvre, W. Mushynski, S. Lefebvre, 1987, Biochemical and biophysical research communications.

A role for protein phosphatase PP1&ggr; in SMN complex formation and subnuclear localization to Cajal bodies

S. Lefebvre, P. Burlet, Gwendoline Quérol, 2012, Journal of Cell Science.

A new role for the calcineurin/NFAT pathway in neonatal myosin heavy chain expression via the NFATc2/MyoD complex during mouse myogenesis

S. Lefebvre, Anne-Sophie Armand, S. Lécolle, 2013, Development.