Suzie Lefebvre

Inserm — France

Medicine · Health Sciences

21h-index2.4kcitations32works2.02yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(19), RNA modifications and cancer(16), RNA Research and Splicing(9), Muscle Physiology and Disorders(5), Congenital Anomalies and Fetal Surgery(4)

Publications32 total

Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy
International Journal of Molecular Sciences·2024· 2 citedOpen Access
A link between agrin signalling and Cav3.2 at the neuromuscular junction in spinal muscular atrophy
Scientific Reports·2022· 7 citedOpen Access
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
Frontiers in Molecular Biosciences·2020· 5 citedOpen Access
Author Correction: Collagen XXV promotes myoblast fusion during myogenic differentiation and muscle formation
Scientific Reports·2019· 2 citedOpen Access
Collagen XXV promotes myoblast fusion during myogenic differentiation and muscle formation
Scientific Reports·2019· 33 citedOpen Access
Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy
Scientific Reports·2018· 12 citedOpen Access
A new role for the calcineurin/NFAT pathway in neonatal myosin heavy chain expression via the NFATc2/MyoD complex during mouse myogenesis
Development·2013· 39 citedOpen Access
Implication of the SMN complex in the biogenesis and steady state level of the Signal Recognition Particle
Nucleic Acids Research·2012· 41 citedOpen Access
A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies
Journal of Cell Science·2012· 25 citedOpen Access
The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy
Human Molecular Genetics·2009· 33 citedOpen Access
Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells
Journal of Cell Science·2006· 35 citedOpen Access
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13
Annals of Neurology·2002· 51 cited
Detection of heterozygous<i>SMN1</i> deletions in SMA families using a simple fluorescent multiplex PCR method
Journal of Medical Genetics·2001· 36 citedOpen Access
Avancées et perspectives dans les amyotrophies spinales
MTP. Médecine thérapeutique pédiatrie·1998
1-02-11 Spinal muscular atrophy: Etiology and pathogenesis
Journal of the Neurological Sciences·1997
Correlation between severity and SMN protein level in spinal muscular atrophy
Nature Genetics·1997· 1.1k cited
cDNA Isolation, Expression, and Chromosomal Localization of the Mouse Survival Motor Neuron Gene (Smn)
Genomics·1997· 64 cited
Structure and Organization of the Human Survival Motor Neurone (SMN) Gene
Genomics·1996· 251 cited
Approche moléculaire d'une dégénérescence du motoneurone spinal : les maladies de Werdnig-Hoffmann et de Kugelberg-Welander
Annales de l Institut Pasteur / Actualités·1996
SMN gene deletions in adult-onset spinal muscular atrophy
The Lancet·1995· 74 cited
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Frequent Co-authors

Philippe Burlet(9), Arnold Münnich(9), Olivier Clermont(7), Judith Melki(7), Lydie Bürglen(6), Louis Viollet(6), Rafael Picorel(4), Gabriel Gingras(4), Anne‐Sophie Armand(4), Delphine Sapaly(4), Perrine Delers(4), Solange Bertrandy(3), Corinne Cruaud(3), Jean‐François Bureau(3), Michel Brahic(3), Walter E. Mushynski(3), Benoît Renvoisé(3), Badih Salman(3), Jon Andoni Urtizberea(2), Elodie Vial(2)