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List of works by Benoit Funalot

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

scientific article published on 01 September 2011

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

scientific article published in November 2009

A reversible functional sensory neuropathy model

scientific article published on 02 May 2014

CNS/PNS boundary transgression by central glia in the absence of Schwann cells or Krox20/Egr2 function.

scientific article published in April 2010

Characterization of Endoneurial Fibroblast-like Cells from Human and Rat Peripheral Nerves.

scientific article published on 26 March 2014

Early onset Parkinsonism associated with an intronic SOD1 mutation ⬇️

scholarly article by Imen Kacem et al published May 2012 in Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

Ehlers-Danlos syndrome in rheumatology: Diagnostic and therapeutic challenges

scientific article published on 23 May 2015

Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

scientific article published on 7 July 2016

FLNA genomic rearrangements cause periventricular nodular heterotopia

scientific article published on 11 January 2012

Fingolimod inhibits PDGF-B-induced migration of vascular smooth muscle cell by down-regulating the S1PR1/S1PR3 pathway ⬇️

scientific article published on July 22, 2012

Fingolimod potentiates the effects of sunitinib malate in a rat breast cancer model

scientific article published on 09 December 2011

Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study.

scientific article

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 2017

Genetic diagnosis of Mendelian disorders via RNA sequencing

article

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

scientific article published on 26 May 2017

High metabolic level in patients with familial amyotrophic lateral sclerosis

article

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

scientific article published on 22 January 2018

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.

scientific article published in May 2012

How can grafted breast cancer models be optimized?

scientific article published on 15 November 2011

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

scientific article

In vitro 3D angiogenesis assay in egg white matrix: comparison to Matrigel, compatibility to various species, and suitability for drug testing

scientific article

Inherited peripheral neuropathies due to mitochondrial disorders.

scientific article published on 24 April 2014

Insulin-Like Growth Factor-I, Insulin-Like Growth factor Binding Protein-3 and Blood Hemoglobin Concentration in an Elderly Population.

scientific article

Insulin-like growth factor I, insulin-like growth factor binding protein 3, and atrial fibrillation in the elderly.

scientific article

Insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Alzheimer's disease.

scientific article published on 26 September 2012

Krox20 inactivation in the PNS leads to CNS/PNS boundary transgression by central glia

scientific article published on 28 December 2010

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

scientific article

Low Serum Insulin-Like Growth Factor-I Predicts Cognitive Decline in Alzheimer's Disease.

scientific article published on 29 March 2016

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

scientific article published in July 2012

Motor neuronopathy in Chediak-Higashi syndrome

scientific article published on 21 June 2014

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

scientific article published on February 2010

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

scientific article published on 29 June 2016

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

scientific article

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

scientific article published on March 2014

Neuroprotective effect of erythropoietin against pressure ulcer in a mouse model of small fiber neuropathy

scientific article

New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation

scientific article published on 21 June 2016

Peripheral neuropathies due to mitochondrial disorders

scientific article published in December 2009

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE).

scientific article published in March 2017

Reply: The expanding neurological phenotype of DNM1L-related disorders

scientific article published on 01 April 2018

The various Charcot-Marie-Tooth diseases.

scientific article published on October 2013

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

scientific article

[Cardiac amyloidosis: How to recognize them and manage them?]

scientific article published on 01 August 2016

[Charcot-Marie-Tooth (CMT) disease: an update]

scientific article published on 01 October 2010

[Familial amyloidotic polyneuropathies]

scientific article published in October 2012

[Krox20 inactivation in the PNS leads to CNS/PNS boundary transgression by central glia]

scientific article published on 01 April 2010

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