L. Jornéa

发表

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications

J. Pariente, R. Levy, F. Pasquier, 2021, Journal of Neurology Neurosurgery & Psychiatry.

Endometriosis Associated-miRNome Analysis of Blood Samples: A Prospective Study

C. Touboul, S. Bendifallah, E. Daraï, 2022, Diagnostics.

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers

B. Dubois, V. Meininger, A. Brice, 2015, Alzheimer's & dementia.

The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency

B. Dubois, M. Sarazin, F. Lamari, 2020, Neurobiology of Aging.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

F. Lamari, D. Campion, A. Brice, 2014, neurogenetics.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

F. Pasquier, C. Duyckaerts, C. van Broeckhoven, 2021, Brain : a journal of neurology.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

A Bioinformatics Approach to MicroRNA-Sequencing Analysis Based on Human Saliva Samples of Patients with Endometriosis

C. Touboul, S. Bendifallah, E. Daraï, 2022, International journal of molecular sciences.

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes

D. Hannequin, A. Brice, D. Wallon, 2014, Neurobiology of Aging.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

C. Duyckaerts, A. Durr, F. Lamari, 2019, Brain : a journal of neurology.

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

S. Lehéricy, B. Dubois, J. Pariente, 2019, Neurobiology of Aging.

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

B. Dubois, J. Pariente, R. Levy, 2020, Neurobiology of Aging.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

F. Lamari, D. Campion, A. Brice, 2014, neurogenetics.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Alexandra Durr, Chokri Mhiri, Stephan Züchner, 2013, American journal of human genetics.

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration

B. Dubois, F. Pasquier, A. Brice, 2010, Journal of Neurology.

Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression

C. Touboul, S. Bendifallah, E. Daraï, 2022, Diagnostics.

MicroRNome analysis generates a blood-based signature for endometriosis

C. Touboul, S. Bendifallah, E. Daraï, 2022, Scientific Reports.

Salivary MicroRNA Signature for Diagnosis of Endometriosis

C. Touboul, S. Bendifallah, E. Daraï, 2022, Journal of clinical medicine.

Endometriosis-associated infertility diagnosis based on saliva microRNA signatures.

C. Touboul, S. Bendifallah, E. Daraï, 2022, Reproductive biomedicine online.

Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.

J. Camadro, E. Lesuisse, A. Bulteau, 2012, Biochimica et biophysica acta.

Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

F. Pasquier, O. Colliot, S. Forlani, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

Validation of a Salivary miRNA Signature of Endometriosis — Interim Data

C. Touboul, S. Bendifallah, D. Bouteiller, 2023, NEJM Evidence.

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

S. Lehéricy, B. Dubois, J. Pariente, 2019, Neurobiology of Aging.