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Strangeness nuclear physics: a critical review on selected topics

The European physical journal. A, Hadrons and nuclei, 2012-03, Vol.48 (3), Article 41

2012

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Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Proceedings of the National Academy of Sciences - PNAS, 2016-03, Vol.113 (9), p.E1236-E1245

2016

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Charge symmetry breaking in s− and p−shell Λ−hypernuclei: An updated review

AIP Conference Proceedings, 2019, Vol.2130 (1)

2019

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A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

Nature genetics, 2004-07, Vol.36 (7), p.714-719

2004

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Heterogeneity and overlaps in nucleotide excision repair disorders

Clinical genetics, 2020-01, Vol.97 (1), p.12-24

2020

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Strangeness physics programs by S-2S at J-PARC

EPJ Web of conferences, 2022, Vol.271, p.11002

2022

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The first observation of the neutron-rich hypernucleus HΛ6

Nuclear physics. A, 2013-09, Vol.914, p.119-129

Botta, Elena

2013

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The first observation of the neutron-rich hypernucleus H Λ 6

Nuclear physics. A, 2013-09, Vol.914, p.119-129

Botta, Elena

2013

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An event excess observed in the deeply bound region of the 12C (K−, p) missing-mass spectrum

Progress of theoretical and experimental physics, 2020-12, Vol.2020 (12)

2020

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Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

Proceedings of the National Academy of Sciences - PNAS, 1997-08, Vol.94 (16), p.8658-8663

1997

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Recent results on mesonic and non-mesonic weak decays

Nuclear physics. A, 2010-04, Vol.835 (1), p.152-159

Botta, Elena

2010

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Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

Molecular and Cellular Biology, 2005-09, Vol.25 (18), p.8368-8378

2005

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Beam and SKS spectrometers at the K1.8 beam line

Progress of theoretical and experimental physics, 2012-01, Vol.2012 (1)

2012

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Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Proceedings of the National Academy of Sciences - PNAS, 2021-06, Vol.118 (26)

2021

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TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Human mutation, 2022-12, Vol.43 (12), p.2222-2233

2022

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Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Proceedings of the National Academy of Sciences - PNAS, 2021-06, Vol.118 (26)

2021

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Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features

Journal of investigative dermatology, 2005-07, Vol.125 (1), p.86-92

2005

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Human molecular genetics, 2021-08, Vol.30 (18), p.1711-1720

2021

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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

American journal of human genetics, 2019-08, Vol.105 (2), p.434-440

2019

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StayHomeStayFit: UNIMI's approach to online healthy lifestyle promotion during the COVID-19 pandemic

Acta bio-medica : Atenei Parmensis, 2020-09, Vol.91 (3), p.e2020037-e2020037

2020

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Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene

Clinical genetics, 2021-06, Vol.99 (6), p.842-848

2021

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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

American journal of human genetics, 2016-04, Vol.98 (4), p.627-642

2016

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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Journal of medical genetics, 2015-04, Vol.52 (4), p.269-274

2015

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Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes

Experimental dermatology, 2015-04, Vol.24 (4), p.314-316

2015

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From laboratory tests to functional characterisation of Cockayne syndrome

Mechanisms of ageing and development, 2013-05, Vol.134 (5-6), p.171-179

2013

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Strangeness nuclear physics: a critical review on selected topics

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Charge symmetry breaking in s− and p−shell Λ−hypernuclei: An updated review

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

Heterogeneity and overlaps in nucleotide excision repair disorders

Strangeness physics programs by S-2S at J-PARC

The first observation of the neutron-rich hypernucleus HΛ6

The first observation of the neutron-rich hypernucleus H Λ 6

An event excess observed in the deeply bound region of the 12C (K−, p) missing-mass spectrum

Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

Recent results on mesonic and non-mesonic weak decays

Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

Beam and SKS spectrometers at the K1.8 beam line

Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

StayHomeStayFit: UNIMI's approach to online healthy lifestyle promotion during the COVID-19 pandemic

Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes

From laboratory tests to functional characterisation of Cockayne syndrome

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