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A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi
Carol Dobson-Stone
Anthony P. Monaco
Research01 Jun 2001
Nature Genetics

Volume: 28, P: 119-120
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Claudia Castiglioni
Fabiana Fattori
Giorgio Tasca
Research22 Jan 2018
European Journal of Human Genetics

Volume: 26, P: 367-373
A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Paola Da Pozzo
Elena Cardaioli
Antonio Federico
Research18 Feb 2009
European Journal of Human Genetics

Volume: 17, P: 1092-1096
Genotype–phenotype correlations in recessive titinopathies

Marco Savarese
Anna Vihola
Bjarne Udd
Research11 Aug 2020
Genetics in Medicine

Volume: 22, P: 2029-2040
Morpho-mechanics of human collagen superstructures revealed by all-optical correlative micro-spectroscopies

Raffaella Mercatelli et al. present a method incorporating Brillouin and Raman microscopy with Second-Harmonic-Generation microscopy. They examine human corneas, showing an unprecedented combination of viscoelastic, biochemical, and morphological properties of collagen.

Raffaella Mercatelli
Sara Mattana
Riccardo Cicchi
ResearchOpen Access26 Mar 2019
Communications Biology

Volume: 2, P: 1-10
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

Tiziana Squillaro
Franca Cambi
Francesca Ariani
Correspondence18 Jan 2007
Journal of Human Genetics

Volume: 52, P: 201-204

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Genotype–phenotype correlations in recessive titinopathies

Morpho-mechanics of human collagen superstructures revealed by all-optical correlative micro-spectroscopies

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Genotype–phenotype correlations in recessive titinopathies

Morpho-mechanics of human collagen superstructures revealed by all-optical correlative micro-spectroscopies

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

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A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency