M. Martin‐Négrier

发表

Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes

M. Martin-Négrier, D. Lacombe, C. Combe, 2019, Clinical genetics.

Fatal brain stem encephalitis due to herpes simplex virus type 1 in AIDS

M. Martin-Négrier, A. Moulignier, M. Baudrimont, 1996, Journal of Neurology.

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

A. Durr, D. Hannequin, S. Forlani, 2011, Human mutation.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

A. Laquérriere, C. Rooryck, M. Martin-Négrier, 2020, Acta Neuropathologica Communications.

Increased prevalence of granulovacuolar degeneration in C9orf72 mutation

C. Duyckaerts, F. Salachas, G. Sobue, 2019, Acta Neuropathologica.

Intra‐axonal protein aggregation in the peripheral nervous system

E. Bézard, M. Martin-Négrier, F. Tison, 2014, Journal of the peripheral nervous system : JPNS.

Mutation of TP53 gene is involved in carcinogenesis of hepatic undifferentiated (embryonal) sarcoma of the adult, in contrast with Wnt or telomerase pathways: an immunohistochemical study of three cases with genomic relation in two cases.

B. Bloch, J. Zucman‐Rossi, S. Lepreux, 2005, Journal of hepatology.

Neurologic manifestations of giant cell arteritis

M. Martin-Négrier, J. Vallat, I. Sibon, 2022, Journal of Neurology.

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

M. Martin-Négrier, V. Procaccio, J. di Rago, 2021, Scientific Reports.

Regulation of G-Protein-Coupled Receptor (GPCR) Trafficking in the Striatum in Parkinson’s Disease

E. Bézard, B. Bloch, M. Martin-Négrier, 2009 .

RGS4 is involved in the generation of abnormal involuntary movements in the unilateral 6-OHDA-lesioned rat model of Parkinson's disease

W. Ko, E. Bézard, P. Ravenscroft, 2014, Neurobiology of Disease.

PSD-95 expression controls L-DOPA dyskinesia through dopamine D1 receptor trafficking.

Qin Li, E. Bézard, B. Bloch, 2012, The Journal of clinical investigation.

l-DOPA Impairs Proteasome Activity in Parkinsonism through D1 Dopamine Receptor

Qin Li, E. Bézard, B. Bloch, 2012, The Journal of Neuroscience.

Receptor recycling mediates plasma membrane recovery of dopamine D1 receptors in dendrites and axons after agonist‐induced endocytosis in primary cultures of striatal neurons

B. Bloch, M. Martin-Négrier, G. Charron, 2006, Synapse.

Agonist stimulation provokes dendritic and axonal dopamine D1 receptor redistribution in primary cultures of striatal neurons

B. Bloch, G. Charron, M.-L Martin-Negrier, 2000, Neuroscience.

The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer’s disease

C. Duyckaerts, V. Deramecourt, F. Chapon, 2020, Acta Neuropathologica Communications.

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study

M. Martin-Négrier, C. Combe, C. Goizet, 2022, Clinical kidney journal.

Human subiculo-fornico-mamillary system in Alzheimer’s disease: Tau seeding by the pillar of the fornix

C. Duyckaerts, V. Deramecourt, F. Chapon, 2019, Acta Neuropathologica.

Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature

J. Orgogozo, M. Martin-Négrier, X. Ferrer, 2002, Journal of the peripheral nervous system : JPNS.

Proteomic remodeling of proteasome in right heart failure.

M. Martin-Négrier, Marie-Laure Thiolat, S. Claverol, 2014, Journal of molecular and cellular cardiology.

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

M. Martin-Négrier, C. Bris, D. Goudenège, 2021, Genetics in Medicine.

Ontogeny of the striatal neurons expressing neuropeptide genes in the human fetus and neonate

B. Bloch, I. Aubert, M. Martin-Négrier, 1995, The Journal of comparative neurology.

Concurrent herpes simplex type 1 necrotizing encephalitis, cytomegalovirus ventriculoencephalitis and cerebral lymphoma in an AIDS patient

M. Martin-Négrier, M. Bras, A. Vital, 2004, Acta Neuropathologica.

An Update on Nerve Biopsy

M. Martin-Négrier, J. Vallat, A. Vital, 2009, Journal of neuropathology and experimental neurology.

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review

M. Martin-Négrier, X. Ferrer, C. Jardel, 2011, European journal of neurology.

The Nigrostriatal Pathway in Creutzfeldt-Jakob Disease

E. Bézard, M. Martin-Négrier, F. Tison, 2009, Journal of neuropathology and experimental neurology.

Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

B. Brochet, M. Martin-Négrier, C. Goizet, 2009, Clinical Neurology and Neurosurgery.

D1 dopamine receptor stimulation impairs striatal proteasome activity in Parkinsonism through 26S proteasome disassembly

E. Bézard, B. Bloch, J. Baufreton, 2015, Neurobiology of Disease.

Differential transcript usage unravels gene expression alterations in Alzheimer’s disease human brains

M. R. Costa, J. Lambert, V. Deramecourt, 2021, npj Aging and Mechanisms of Disease.

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

M. Crouzet, M. Martin-Négrier, P. Reynier, 2008, BMC Medical Genetics.

Paraneoplastic dermatomyositis with glycogen accumulation in muscle.

A. Vital, M. Piraud, A. Lagueny, 2014, Revue neurologique.

Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes

V. Deramecourt, C. Maurage, J. Boetto, 2023, Acta Neuropathologica.

Increased prevalence of granulovacuolar degeneration in C9orf72 mutation

C. Duyckaerts, F. Salachas, G. Sobue, 2019, Acta Neuropathologica.