de Sandre-Giovannoli, Annachiara

Top Publications

Top Publications Authored or Co-Authored by "de Sandre-Giovannoli, Annachiara"

• Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

  American Journal of Human Genetics, Volume 70, No. 3, Year 2002, Citations 565
• The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene

  Neuromuscular Disorders, Volume 13, No. 1, Year 2003, Citations 92
• Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

  Journal of Medical Genetics, Volume 42, No. 3, Year 2005, Citations 55
• An inherited LMNA gene mutation in atypical Progeria syndrome

  American Journal of Medical Genetics, Part A, Volume 158 A, No. 11, Year 2012, Citations 41
• Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

  Nature Communications, Volume 11, No. 1, Article 4589, Year 2020, Citations 30