Publications by authors named "Benoit Funalot"

70Publications

Interstitial lung disease reveals 48,XXYY syndrome in a child.

Acta Paediatr 2020 05 4;109(5):1060-1061. Epub 2019 Dec 4.

Laboratoire de Génétique, Hôpital Henri Mondor, AP-HP, Créteil, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/apa.15090DOI Listing
May 2020

Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene.

J Peripher Nerv Syst 2019 12 9;24(4):354-358. Epub 2019 Oct 9.

APHP, GH-Pitié-Salpêtrière, Centre de référence des maladies neuromusculaires, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jns.12352DOI Listing
December 2019

Central nervous system complications in adult cystinosis patients.

J Inherit Metab Dis 2020 03 18;43(2):348-356. Epub 2019 Sep 18.

Department of Pediatric Radiology, Necker hospital, APHP, Inserm U1000, Imagine Institute, Paris Descartes University, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12164DOI Listing
March 2020

Pitfalls in molecular diagnosis of Friedreich ataxia.

Eur J Med Genet 2018 Aug 9;61(8):455-458. Epub 2018 Mar 9.

Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France; Service de Génétique, Groupe hospitalier Necker Enfants Malades, Assistance Publique -Hôpitaux de Paris, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.03.004DOI Listing
August 2018

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

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Respir Med 2017 08 26;129:16-23. Epub 2017 May 26.

Pediatric Department, Centre Intercommunal de Créteil, Créteil, France; Inserm, Unité 955, Equipe 5, Créteil, France; DHU Ageing Thorax Vessel Blood, Créteil, France; Centre des Maladies Respiratoires Rare, Respirare(®), Paris, France; Université Paris-Est, Faculté de Médecine, Créteil, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmed.2017.05.014DOI Listing
August 2017

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

Presse Med 2016 Oct 1;45(10):845-855. Epub 2016 Aug 1.

CHU Henri-Mondor, service de cardiologie, 94010 Créteil cedex, France; CHU Henri-Mondor, réseau Amylose Mondor, 94010 Créteil cedex, France; Université Paris-Est-Créteil, faculté de médecine, 94010 Créteil cedex, France; CHU Henri-Mondor, GRC-ARI, DHU-ATVB, Inserm U955, IMRB, 94010 Créteil cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lpm.2016.07.001DOI Listing
October 2016

Ehlers-Danlos syndrome in rheumatology: Diagnostic and therapeutic challenges.

Joint Bone Spine 2015 Oct 23;82(5):305-7. Epub 2015 May 23.

Service de rhumatologie, hôpital Avicenne, CHU Avicenne-Jean Verdier-René Muret, AP-HP, 125, rue de Stalingrad, 93009 Bobigny, France; Université Paris 13, 93000 Bobigny, France; Inserm UMR 1125, 93000 Bobigny, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbspin.2015.04.002DOI Listing
October 2015

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

Am J Hum Genet 2014 Dec 13;95(6):637-48. Epub 2014 Nov 13.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259970PMC
December 2014

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

PLoS One 2014 25;9(11):e113454. Epub 2014 Nov 25.

Université de Limoges, 3503 GEIST (Institut Génomique Environnement Immunité Santé et Thérapeutique), EA (Equipe d'accueil) 6309 "Maintenance myélinique et neuropathies périphériques," Faculté de Médecine et de Pharmacie, Limoges, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0113454PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244151PMC
August 2015

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

J Gerontol A Biol Sci Med Sci 2015 Jul 9;70(7):854-9. Epub 2014 Nov 9.

AP-HP, Hôpital Broca, Service de Gériatrie, Paris, France. Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/gerona/glu200DOI Listing
July 2015

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

Neuromuscul Disord 2014 Jun 13;24(6):524-8. Epub 2014 Apr 13.

Centre de référence «neuropathies périphériques rares», service et laboratoire de Neurologie, CHU Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.03.014DOI Listing
June 2014

A reversible functional sensory neuropathy model.

Neurosci Lett 2014 Jun 2;571:39-44. Epub 2014 May 2.

EA 6309 - Schools of Medicine and Pharmacy - University of Limoges, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neulet.2014.04.026DOI Listing
June 2014

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

J Histochem Cytochem 2014 Jun 26;62(6):424-435. Epub 2014 Mar 26.

Faculté de Médecine, Université de Limoges, EA 6309 "Maintenance myélinique et Neuropathies Périphériques", (LR,NV,J-MV,BF)Service et Laboratoire de Neurologie, Centre de Référence "Neuropathies Périphériques Rares", CHU de Limoges (LR,J-MV,BF)Départements de Génétique, Biochimie et Génétique Moléculaire, CHU de Limoges, Limoges, France (BF)

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1369/0022155414530994DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174626PMC
June 2014

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

J Neuropathol Exp Neurol 2014 Mar;73(3):223-33

From the Service de Neurologie, CHU de Poitiers, Université de Poitiers, Poitiers, France (SM); EA 6309 "Maintenance myélinique et Neuropathies Périphériques", Faculté de Médecine, Université de Limoges, Limoges, France (SM, BF, LM, LR, J-MV); Service et Laboratoire de Neurologie, Centre de Référence "Neuropathies Périphériques Rares", CHU de Limoges, Limoges, France (BF, LM, LR, J-MV); Départements de Génétique, Biochimie et Génétique Moléculaire, CHU de Limoges, Limoges, France (BF); Inserm U983, Institut IMAGINE, Centre de Référence MARHEA, and Service de Néphrologie pédiatrique, Hôpital Necker-Enfants Malades, Assistance publique-Hôpitaux de Paris, Paris, France (OB); Université Paris Descartes, Sorbonne Paris Cité, Paris, France (OB, CA); Services de Neurologie et d'Anatomie Pathologique, CHU de Bicêtre, Paris XI University, 94270 Le Kremlin-Bicêtre, France (CL); Laboratoire de Pathologie, CHU Brest, Brest, France (PM); and Département de Génétique, Hôpital Necker-Enfants Malades, APHP, Paris, France (CA).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/NEN.0000000000000047DOI Listing
March 2014

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

J Gerontol A Biol Sci Med Sci 2014 Aug 24;69(8):1025-32. Epub 2013 Dec 24.

Department of Geriatrics, AP-HP, Broca Hospital, Paris, France. Université Paris Descartes, Sorbonne Paris Cité, EA 4468, Paris, France.

View Article

Download full-text PDF

Source
https://academic.oup.com/biomedgerontology/article-lookup/do
Publisher Site
http://dx.doi.org/10.1093/gerona/glt206DOI Listing
August 2014

CMT4D (NDRG1 mutation): genotype-phenotype correlations.

J Peripher Nerv Syst 2013 Sep;18(3):261-5

Service et Laboratoire de Neurologie, Centre de Référence Neuropathies Périphériques Rares, CHU Limoges, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jns5.12039DOI Listing
September 2013

The various Charcot-Marie-Tooth diseases.

Curr Opin Neurol 2013 Oct;26(5):473-80

Centre de référence neuropathies périphériques rares, service et laboratoire de Neurologie, CHU Limoges, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0b013e328364c04bDOI Listing
October 2013

[Familial amyloidotic polyneuropathies].

Bull Acad Natl Med 2012 Oct;196(7):1321-9; discussion 1329-31

Centre de Référence Neuropathies Périphériques Rares, Service de neurologie, CHU Dupuytren, 2 av. Martin Luther King, 87043 Limoges Cedex.

View Article

Download full-text PDF

Source
October 2012

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.

Eur J Endocrinol 2013 Feb 17;168(2):K27-34. Epub 2013 Jan 17.

EA 6309 - Maintenance Myélinique et Neuropathies Périphériques, Faculté de Médecine - Biochimie, Université de Limoges, 6ème étage, 2 rue du Dr Marcland, 87025 Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-12-0714DOI Listing
February 2013

Endoneurial fibroblast-like cells.

J Neuropathol Exp Neurol 2012 Nov;71(11):938-47

National Referral Center for Rare Peripheral Neuropathies, Department of Neurology, Centre Hospitalier Universitaire, Limoges, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/NEN.0b013e318270a941DOI Listing
November 2012

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

J Clin Endocrinol Metab 2012 Dec 26;97(12):4673-81. Epub 2012 Sep 26.

Assistance Publique-Hôpitaux de Paris, Broca Hospital, Department of Geriatrics, 54-56 rue Pascal, 75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2012-2063DOI Listing
December 2012

Early onset Parkinsonism associated with an intronic SOD1 mutation.

Amyotroph Lateral Scler 2012 May 3;13(3):315-7. Epub 2012 Jan 3.

Department of Neurology, ALS Centre, CHU de Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/17482968.2011.623301DOI Listing
May 2012

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

Breast Cancer Res Treat 2012 Jul 9;134(1):31-40. Epub 2011 Dec 9.

Department of Biochemistry and Molecular Genetics, School of Medicine, University of Limoges, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-011-1903-6DOI Listing
July 2012

How can grafted breast cancer models be optimized?

Cancer Biol Ther 2011 Nov 15;12(10):855-64. Epub 2011 Nov 15.

Molecular Biology, School of Medicine, University of Limoges, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/cbt.12.10.18139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3280900PMC
November 2011

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

Bull Acad Natl Med 2010 Apr-May;194(4-5):743-4

INSERM, U1024, CNRS UMR 8197, Ecole Normale Supérieure, Plate-forme Transcriptome, IBENS, 46 rue d'Ulm, 75230 Paris Cédex 05, France.

View Article

Download full-text PDF

Source
July 2011

Nerve biopsy: requirements for diagnosis and clinical value.

Acta Neuropathol 2011 Mar 4;121(3):313-26. Epub 2011 Feb 4.

Service et Laboratoire de Neurologie, Centre de Référence des Neuropathies Périphériques Rares, CHU de Limoges, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-011-0804-4DOI Listing
March 2011

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

Med Sci (Paris) 2010 Oct;26(10):842-7

Service de neurologie, Laboratoire de neuropathologie, neuropathies périphériques rares, Centre de référence, Laboratoire de biochimie et génétique moléculaire, CHU de Limoges, Limoges Cedex, France.

View Article

Download full-text PDF

Source
http://www.medecinesciences.org/10.1051/medsci/20102610842
Publisher Site
http://dx.doi.org/10.1051/medsci/20102610842DOI Listing
October 2010

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

J Neurosci 2010 Apr;30(17):5958-67

Plate-forme Transcriptome and Developmental Biology Section, Inserm, Unité 1024, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8197, Institut de Biologie de l'Ecole Normale Supérieure, 75230 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.0017-10.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6632613PMC
April 2010

[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].

Bull Acad Natl Med 2009 Jan;193(1):151-60; discussion 160-1

Service de Neurologie et Centre de Référence des Neuropathies périphériques rares, CHU Dupuytren, Limoges, France.

View Article

Download full-text PDF

Source
January 2009

Incidence of amyotrophic lateral sclerosis in the Limousin region of France, 1997-2007.

Amyotroph Lateral Scler 2009 Aug;10(4):216-20

Universite de Limoges, IFR 145 GEIST, Institut d'Epidemiologie Neurologique et de Neurologie Tropicale, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17482960902721626DOI Listing
August 2009

[Hereditary peripheral neuropathies].

Presse Med 2009 Sep 26;38(9):1325-34. Epub 2009 Mar 26.

Centre de référence neuropathies périphériques rares, Service de neurologie, Hôpital universitaire Dupuytren, CHU de Limoges, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lpm.2009.01.014DOI Listing
September 2009

Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.

J Neuropathol Exp Neurol 2008 Nov;67(11):1097-102

Laboratoire de Neurologie, Centre de Référence des Neuropathies Périphériques Rares, CHU de Limoges, Limoges, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/NEN.0b013e31818b6cbcDOI Listing
November 2008

High metabolic level in patients with familial amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2009 Apr;10(2):113-7

Department of Neurology and ALS Regional Centre, Hôpital Universitaire Dupuytren, 2 av. Martin-Luther-King, Limoges Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17482960802295192DOI Listing
April 2009

A highly specific microarray method for point mutation detection.

Biotechniques 2008 Jan;44(1):119-26

Department of Biochemistry and Molecular Genetics, University of Limoges, Paris.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2144/000112630DOI Listing
January 2008

A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.

Proc Natl Acad Sci U S A 2006 Jul 29;103(28):10753-8. Epub 2006 Jun 29.

Institut National de la Santé et de la Recherche Médicale, Unité de Neurobiologie et Pharmacologie Moléculaire, U573, Centre Paul Broca, 75014 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0508189103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502303PMC
July 2006

A call for accurate phenotype definition in the study of complex disorders.

Nat Genet 2004 Jan;36(1):3; author reply 3-4

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng0104-3aDOI Listing
January 2004

Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

Ann Neurol 2002 Sep;52(3):374-7

Service de Neurologie, Hôpital Sainte-Anne, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.10299DOI Listing
September 2002