Andre M. De Paula

Marseille, France

Last Updated: 09/26/2026

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Found 23 publications

Phenotype and imaging features associated with APP duplications.

Phenotype and imaging features associated with APP duplications.

Journal: Alzheimer's research & therapy

Published: August 19, 2022

Anti-pan-neurofascin IgM in COVID-19-related Guillain-Barré syndrome: Evidence for a nodo-paranodopathy.

Anti-pan-neurofascin IgM in COVID-19-related Guillain-Barré syndrome: Evidence for a nodo-paranodopathy.

Journal: Neurophysiologie clinique = Clinical neurophysiology

Published: July 30, 2020

Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

Journal: European journal of medical genetics

Published: July 08, 2020

Description of a giant hypothalamic hamartoma associated with an immature ruptured giant sacrococcygeal teratoma: a case report.

Description of a giant hypothalamic hamartoma associated with an immature ruptured giant sacrococcygeal teratoma: a case report.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: May 12, 2020

Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

Journal: Human mutation

Published: December 09, 2019

Nailfold videocapillaroscopy alterations in dermatomyositis, antisynthetase syndrome, overlap myositis, and immune-mediated necrotizing myopathy.

Nailfold videocapillaroscopy alterations in dermatomyositis, antisynthetase syndrome, overlap myositis, and immune-mediated necrotizing myopathy.

Journal: Clinical rheumatology

Published: May 05, 2019

Characteristics of patients with vitamin B12-responsive neuropathy: a case series with systematic repeated electrophysiological assessment.

Characteristics of patients with vitamin B12-responsive neuropathy: a case series with systematic repeated electrophysiological assessment.

Journal: Neurological research

Published: March 20, 2019

Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy.

Deep brain stimulation does not enhance neuroinflammation in multiple system atrophy.

Journal: Neurobiology of disease

Published: May 16, 2018

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Journal: Neuromuscular disorders : NMD

Published: May 09, 2016

Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling.

Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling.

Journal: Neuro-oncology

Published: December 16, 2015

Early thoracoscopic resection of an atypical upper extralobar sequestration.

Early thoracoscopic resection of an atypical upper extralobar sequestration.

Journal: Expert review of respiratory medicine

Published: September 16, 2014

A dominant STIM1 mutation causes Stormorken syndrome.

A dominant STIM1 mutation causes Stormorken syndrome.

Journal: Human mutation

Published: January 03, 2014

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Last Updated: 09/26/2026