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Heart–hand syndrome of Slovenian type: a new kind of laminopathy

Journal of medical genetics, 2008-10, Vol.45 (10), p.666-671

2008

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An assessment of the performance of elastography for the investigation of BI-RADS 4 and BI-RADS 5 breast lesions: Correlations with pathological anatomy findings

Diagnostic and interventional imaging, 2012-10, Vol.93 (10), p.757-766

2012

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Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Neurology, 2007-05, Vol.68 (22), p.1883-1894

2007

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Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

Neurology, 2002-08, Vol.59 (4), p.620-623

2002

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A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

Journal of medical genetics, 2004-03, Vol.41 (3), p.e29-29

2004

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La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA

Revue neurologique, 2005, Vol.161 (1), p.42-54

2005

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Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations

Circulation (New York, N.Y.), 2001-02, Vol.103 (8), p.1095-1101

2001

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New Complex Investigations of the Novhorod-Siverskyi Upper Palaeolithic Site

Arkheolohii͡a︡ (Kiev, Ukraine : 1989), 2021-12 (4), p.5-34

2021

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Anatomie pathologique : le groupe des techniciens de Midi-Pyrénées

Annales de pathologie, 2016-08, Vol.36 (4), p.300-300

2016

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P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12 years retrospective

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.672-673

2011

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Subsistence activities in the gravettian occupations of the Pushkari group: Pushkari I and Pushkari VIII (Pogon) (Ukraine)

Quaternary international, 2021-06, Vol.587-588, p.291-309

2021

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Zooarchaeological analysis of the Raşcov 8 Upper Palaeolithic site (Republic of Moldova)

Anthropologie (Paris), 2021-09, Vol.125 (4), p.102927, Article 102927

2021

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Upper Palaeolithic Occupations in The Middle Dnister Valley: Zooarchaeological Studies in the Doroshivtsi Iii Site (Ukraine) — Campaign 2019

Arkheolohii͡a︡ (Kiev, Ukraine : 1989), 2024-05 (2), p.5-49

2024

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Study of human behaviors during the late pleniglacial in the East European Plain through their relation to the animal world

Quaternary international, 2021-04, Vol.581-582, p.258-289

2021

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Results of the study of “residential structures” on the Upper Palaeolithic site of Climӑuți II in the Middle Dniester region

Revista arheologică = Revue archéologique = Archaeological magazine, 2018, Vol.XIV (1), p.5-12

2018

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G.P.1.03 Important variability in clinical severity in a family with Col VI-related myopathy: Potential implication of digenism?

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.731-731

2008

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New evidences about human activities during the first part of the Upper Pleniglacial in Ukraine from zooarchaeological studies

Quaternary international, 2016-08, Vol.412, p.16-36

2016

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PALAEOLITHIC HUMAN SOCIETIES DURING THE UPPER PLENIGLACIAL THROUGHT THEIR RELATIONS WITH OTHER ANIMALS IN UKRAINIAN ARCHAEOLOGICAL SITES

Archaeology and Early History of Ukraine, 2020-12, Vol.37 (4), p.82-93

2020

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The status of canids in the economy of the Epigravettian groups of the Desna valley

Camera Praehistorica, 2019-12, Vol.2 (3), p.66-86

Demay, Laëtitia

2019

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G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.797-798

2007

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Évaluation des performances de l’élastographie dans l’exploration des lésions mammaires classées ACR4 et ACR5 : corrélation avec les données anatomopathologiques

Journal de radiologie diagnostique et interventionnelle, 2012-10, Vol.93 (10), p.804-813

2012

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Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

Journal of medical genetics, 2010-12, Vol.47 (12), p.795-796

2010

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P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12years retrospective

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9-10), p.672-673

2011

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Genomic Organization of the KCNQ1 K+ Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome

Circulation research, 1999-02, Vol.84 (3), p.290-297

1999

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C-terminal HERG mutations : The role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence

Circulation (New York, N.Y.), 1999-03, Vol.99 (11), p.1464-1470

1999

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Heart–hand syndrome of Slovenian type: a new kind of laminopathy

An assessment of the performance of elastography for the investigation of BI-RADS 4 and BI-RADS 5 breast lesions: Correlations with pathological anatomy findings

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA

Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations

New Complex Investigations of the Novhorod-Siverskyi Upper Palaeolithic Site

Anatomie pathologique : le groupe des techniciens de Midi-Pyrénées

P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12 years retrospective

Subsistence activities in the gravettian occupations of the Pushkari group: Pushkari I and Pushkari VIII (Pogon) (Ukraine)

Zooarchaeological analysis of the Raşcov 8 Upper Palaeolithic site (Republic of Moldova)

Upper Palaeolithic Occupations in The Middle Dnister Valley: Zooarchaeological Studies in the Doroshivtsi Iii Site (Ukraine) — Campaign 2019

Study of human behaviors during the late pleniglacial in the East European Plain through their relation to the animal world

Results of the study of “residential structures” on the Upper Palaeolithic site of Climӑuți II in the Middle Dniester region

G.P.1.03 Important variability in clinical severity in a family with Col VI-related myopathy: Potential implication of digenism?

New evidences about human activities during the first part of the Upper Pleniglacial in Ukraine from zooarchaeological studies

PALAEOLITHIC HUMAN SOCIETIES DURING THE UPPER PLENIGLACIAL THROUGHT THEIR RELATIONS WITH OTHER ANIMALS IN UKRAINIAN ARCHAEOLOGICAL SITES

The status of canids in the economy of the Epigravettian groups of the Desna valley

G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)

Évaluation des performances de l’élastographie dans l’exploration des lésions mammaires classées ACR4 et ACR5 : corrélation avec les données anatomopathologiques

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12years retrospective

Genomic Organization of the KCNQ1 K+ Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome

C-terminal HERG mutations : The role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence

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