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Neurite density is reduced in the presymptomatic phase of C9orf72 disease

Junhao Wen , Hui Zhang , Daniel C Alexander , Stanley Durrleman , Alexandre Routier , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2019, J Neurol Neurosurg Psychiatry, 90 (4), pp.387-94. ⟨10.1136/jnnp-2018-318994⟩
Article dans une revue hal-01907482v1

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Isabelle Le Ber , Inge van Bortel , Gael Nicolas , Kawtar Bouya-Ahmed , Agnès Camuzat , et al.
Neurobiology of Aging, 2014, 35 (4), pp.934.e5-6
Article dans une revue hal-01245808v1

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

Isabelle Le Ber , Agnès Camuzat , Lena Guillot-Noel , Didier Hannequin , Lucette Lacomblez , et al.
Journal of Alzheimer's Disease, 2013, 34 (2), pp.485-99. ⟨10.3233/JAD-121456⟩
Article dans une revue hal-00924796v1

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Oriane Broustal , Agnès Camuzat , Lena Guillot-Noël , Nathalie Guy , Stéphanie Millecamps , et al.
Journal of Alzheimer's Disease, 2010, 22 (3), pp.765-9
Article dans une revue hal-00926874v1
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Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

Leila Sellami , Benoit Rucheton , Imen Ben Younes , Agnès Camuzat , Dario Saracino , et al.
Neurobiology of Aging, 2020, 91, pp.167.e1-167.e9. ⟨10.1016/j.neurobiolaging.2020.02.014⟩
Article dans une revue hal-02870179v1

Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

Gaël Nicolas , David Wallon , Claudia Goupil , Anne-Claire Richard , Cyril Pottier , et al.
European Journal of Human Genetics, 2015, 24 (1), pp.92-98. ⟨10.1038/ejhg.2015.61⟩
Article dans une revue hal-01234142v1
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Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Clémence Fournier , Mathieu Barbier , Agnès Camuzat , Vincent Anquetil , Serena Lattante , et al.
Neurobiology of Aging, 2019, 74, pp.234.e1-234.e8. ⟨10.1016/j.neurobiolaging.2018.09.010⟩
Article dans une revue hal-02025976v1

Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment*

Bello Hamidou , Benoît Marin , Géraldine Lautrette , Marie Nicol , William Camu , et al.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2017, 18 (7-8), pp.519 - 527. ⟨10.1080/21678421.2017.1353098⟩
Article dans une revue hal-01757319v1
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Early cognitive, structural and microstructural changes in c9orf72 presymptomatic carriers before 40 years of age

Anne Bertrand , Junhao Wen , Daisy Rinaldi , Marion Houot , Sabrina Sayah , et al.
JAMA neurology, 2018, 75 (2), pp.236-245. ⟨10.1001/jamaneurol.2017.4266⟩
Article dans une revue hal-01654000v1
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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Stéphanie Millecamps , François Salachas , Cécile Cazeneuve , Paul Gordon , Bernard Bricka , et al.
Journal of Medical Genetics, 2010, 47 (8), pp.554-60. ⟨10.1136/jmg.2010.077180⟩
Article dans une revue hal-00607332v1

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

Lina Benajiba , Isabelle Le Ber , Agnès Camuzat , Mathieu Lacoste , Catherine Thomas-Anterion , et al.
Annals of Neurology, 2009, 65 (4), pp.470-3. ⟨10.1002/ana.21612⟩
Article dans une revue istex hal-00407819v1

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Serena Lattante , Stéphanie Millecamps , Giovanni Stevanin , Sophie Rivaud-Péchoux , Carine Moigneu , et al.
Neurology, 2014, 83 (11), pp.990-5
Article dans une revue hal-01205502v1