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Guillain-BarrÉ syndrome subtype diagnosis: A prospective multicentric European study

Peter van den Bergh , Francoise Pieret , John Woodard , Shahram Attarian , Aude-Marie Grapperon et al.
Muscle & Nerve, 2018, 58 (1), pp.23-28. ⟨10.1002/mus.26056⟩
Article dans une revue hal-02616885v1

Serum GH concentration must now be expressed in mass units in France like in the rest of the world

Philippe Chanson , Rachel Reynaud , Régis Coutant , Agnès Linglart , Marc Nicolino et al.
Annales de Biologie Clinique, 2018, 76 (2), pp.133-134. ⟨10.1684/abc.2018.1322⟩
Article dans une revue hal-02616910v1
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Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study

Frederic Castinetti , Steven Waguespack , Andreas Machens , Shinya Uchino , Kornelia Lazaar et al.
The Lancet. Diabetes & Endocrinology , 2019, 7 (3), pp.213-220. ⟨10.1016/S2213-8587(18)30336-X⟩
Article dans une revue hal-02616929v1

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Marie-Laure Vuillaume , Marie-Pierre Moizard , Sylvie Rossignol , Edouard Cottereau , Sandrine Vonwill et al.
Human Mutation, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩
Article dans une revue hal-02393015v1

Prevalence, correlates and impact of pain and cramps in anti-MAG neuropathy: a multicentre European study

Yusuf Rajabally , Émilien Delmont , F Hiew , A-C Aubé-Nathier , Aude-Marie Grapperon et al.
European Journal of Neurology, 2018, 25 (1), pp.135-141. ⟨10.1111/ene.13459⟩
Article dans une revue hal-02616895v1

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

Pascal Pujol , Pierre Vande Perre , Laurence Faivre , Damien Sanlaville , Carole Corsini et al.
European Journal of Human Genetics, 2018, 26 (12), pp.1732-1742. ⟨10.1038/s41431-018-0224-1⟩
Article dans une revue hal-01870352v1
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Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations

Sarah Castets , Florence Roucher-Boulez , Alexandru Saveanu , Delphine Mallet-Motak , Olivier Chabre et al.
Hormone Research in Paediatrics, 2020, 93 (1), pp.30-39. ⟨10.1159/000507249⟩
Article dans une revue hal-03223181v1

Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells

Marie Deck , Gerben van Hameren , Graham Campbell , Nathalie Bernard-Marissal , Jérôme Devaux et al.
PLoS ONE, 2022, 17 (10), pp.e0272097. ⟨10.1371/journal.pone.0272097⟩
Article dans une revue hal-03861076v1

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome

Antoine Tabarin , Guillaume Assie , Pascal Barat , Fideline Bonnet , Jean Francois Bonneville et al.
Annales d'Endocrinologie, 2022, ⟨10.1016/j.ando.2022.02.001⟩
Article dans une revue hal-03604251v1

Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the international TOSCA study

Anna C. Jansen , Elena Belousova , Mirjana P. Benedik , Tom Carter , Vincent Cottin et al.
Frontiers in Neurology, 2019, 10, pp.821. ⟨10.3389/fneur.2019.00821⟩
Article dans une revue hal-03603520v1

ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review

Yohan Bodokh , Damien Ambrosetti , Valerie Kubiniek , Branwel Tibi , Matthieu Durand et al.
Cancer genetics (Print), ISSN 2210-7762, 2018, 221, pp.31-37. ⟨10.1016/j.cancergen.2017.11.010⟩
Article dans une revue hal-02000330v1

Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

Antonina Karas , Yuwu Jiang , Liping Zou , Kaifeng Xu , Yushi Zhang et al.
Frontiers in Neurology, 2019, 10, pp.705. ⟨10.3389/fneur.2019.00705⟩
Article dans une revue hal-03603521v1

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Marie Le Roux , Magalie Barth , Sophie Gueden , Patrick Desbordes de Cepoy , Alec Aeby et al.
European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
Article dans une revue hal-03662709v1
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Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

Aurélien Perrin , Philippe Latour , Vincent Procaccio , Claude Jardel , Mathieu Cerino et al.
médecine/sciences, 2018, 34 (Hors-série 2), pp.20-22. ⟨10.1051/medsci/201834s206⟩
Article dans une revue hal-01938567v1

DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.

A. Bruel , B. Gerard , A. Piton , F. Tran Mau-Them , A. Sorlin et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.333-334. ⟨10.1038/s41431-020-00739-z⟩
Article dans une revue hal-03131626v1
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Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Sahar Elouej , Karim Harhouri , Morgane Le Mao , Genevieve Baujat , Sheela Nampoothiri et al.
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩
Article dans une revue hal-02942760v1

Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste et al.
Epilepsia, 2019, ⟨10.1111/epi.14727⟩
Article dans une revue hal-02417625v1
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Marie Le Roux , Julien van Gils , Sophie Gueden , Patrick Desbordes de Cepoy , Alec Aeby et al.
European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩
Article dans une revue hal-03477017v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios et al.
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Article dans une revue hal-02237297v1

A roadmap for the Human Developmental Cell Atlas

Muzlifah Haniffa , Deanne Taylor , Sten Linnarsson , Bruce Aronow , Gary Bader et al.
Nature, 2021, 597 (7875), pp.196-205. ⟨10.1038/s41586-021-03620-1⟩
Article dans une revue hal-03365045v1
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin , Borja Rodríguez-Herreros , Jared Nielsen , Clara Moreau , Claudia Modenato et al.
Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Article dans une revue hal-01870357v1

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth Schluth-Bolard , Flavie Diguet , Nicolas Chatron , Pierre-Antoine Rollat-Farnier , Claire Bardel et al.
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Article dans une revue hal-03863519v1

Endocrine side-effects of new anticancer therapies: Overall monitoring and conclusions

Frederic Castinetti , Frédéric Albarel , Françoise Archambeaud , Jérôme Bertherat , Benjamin Bouillet Bouillet et al.
Annales d'Endocrinologie, 2018, 79 (5), pp.591-595. ⟨10.1016/j.ando.2018.07.005⟩
Article dans une revue hal-01979955v1