Publications 2015
El-Etr M, Rame M, Boucher C, Ghoumari AM, Kumar N, Liere P, Pianos A, Schumacher M, Sitruk-Ware R (2015) Progesterone and nestorone promote myelin regeneration in chronic demyelinating lesions of corpus callosum and cerebral cortex. Glia 63:104-117 (PMID: 25092805) (doi: 10.1002/glia.22736)
Engelen M, Barbier M, Dijkstra IM, Schur R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S (2015) Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy. Brain 138:e326 (PMID: 25149411) (doi: 10.1093/brain/awu233)
Meffre D, Shackleford G, Hichor M, Gorgievski V, Tzavara ET, Trousson A, Ghoumari AM, Deboux C, Nait Oumesmar B, Liere P, Schumacher M, Baulieu EE, Charbonnier F, Grenier J, Massaad C (2015) Liver X receptors alpha and beta promote myelination and remyelination in the cerebellum. Proc Natl Acad Sci U S A 112:7587-7592 (PMID: 26023184) (doi: 10.1073/pnas.1424951112)
Mariani LL, Lozeron P, Theaudin M, Mincheva Z, Signate A, Ducot B, Algalarrondo V, Denier C, Adam C, Nicolas G, Samuel D, Slama MS, Lacroix C, Misrahi M, Adams D (2015) Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol 78:901-916 (PMID: 26369527) (doi: 10.1002/ana.24519)
Zhang L, Li D, Wan H, Hao S, Wang S, Wu Z, Zhang J, Qiao H, Li P, Wang M, Su D, Schumacher M, Liu S (2015) Hypoglossal-facial nerve ‘side’-to-side neurorrhaphy using a predegenerated nerve autograft for facial palsy after removal of acoustic tumours at the cerebellopontine angle. J Neurol Neurosurg Psychiatry 86:865-872 (PMID: 25228445) (doi: 10.1136/jnnp-2014-308465)
- Diaz-Valencia PA, Bougneres P, Valleron AJ.
Covariation of the incidence of type 1 diabetes with country characteristics available in public databases.
PloS one 2015; 10:e0118298 (PMID: 25706995) DOI - Diaz-Valencia PA, Bougneres P, Valleron AJ.
Global epidemiology of type 1 diabetes in young adults and adults: a systematic review.
BMC Public Health 2015; 15:255 (PMID: 25849566) DOI - El-Etr M, Rame M, Boucher C, Ghoumari AM, Kumar N, Liere P, Pianos A, Schumacher M, Sitruk-Ware R.
Progesterone and nestorone promote myelin regeneration in chronic demyelinating lesions of corpus callosum and cerebral cortex.
Glia 2015; 63:104-117 (PMID: 25092805) DOI - Frechou M, Zhang S, Liere P, Delespierre B, Soyed N, Pianos A, Schumacher M, Mattern C, Guennoun R.
Intranasal delivery of progesterone after transient ischemic stroke decreases mortality and provides neuroprotection.
Neuropharmacology 2015; 97:394-403 (PMID: 26079443) DOI - Gaignard P, Savouroux S, Liere P, Pianos A, Therond P, Schumacher M, Slama A, Guennoun R.
Effect of Sex Differences on Brain Mitochondrial Function and Its Suppression by Ovariectomy and in Aged Mice.
Endocrinology 2015; 156:2893-2904 (PMID: 26039154) DOI - Labombarda F, Jure I, Gonzalez S, Lima A, Roig P, Guennoun R, Schumacher M, De Nicola AF.
A functional progesterone receptor is required for immunomodulation, reduction of reactive gliosis and survival of oligodendrocyte precursors in the injured spinal cord.
J Steroid Biochem Mol Biol 2015; 154:274-284 (PMID: 26369614) DOI - Linglart A, Tauber M, Bougneres P, Lebouc Y, Chatelain P.
Growth hormone treatment for childhood short stature and risk of stroke in early adulthood.
Neurology 2015; 84:1062-1063 (PMID: 25754806) DOI - Mariani LL, Lozeron P, Theaudin M, Mincheva Z, Signate A, Ducot B, Algalarrondo V, Denier C, Adam C, Nicolas G, Samuel D, Slama MS, Lacroix C, Misrahi M, Adams D.
Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.
Ann Neurol 2015; 78:901-916 (PMID: 26369527) DOI - Meffre D, Shackleford G, Hichor M, Gorgievski V, Tzavara ET, Trousson A, Ghoumari AM, Deboux C, Nait Oumesmar B, Liere P, Schumacher M, Baulieu EE, Charbonnier F, Grenier J, Massaad C.
Liver X receptors alpha and beta promote myelination and remyelination in the cerebellum.
Proc Natl Acad Sci U S A 2015; 112:7587-7592 (PMID: 26023184) DOI - Meyer M, Gonzalez Deniselle MC, Garay L, Sitruk-Ware R, Guennoun R, Schumacher M, De Nicola AF.
The progesterone receptor agonist Nestorone holds back proinflammatory mediators and neuropathology in the wobbler mouse model of motoneuron degeneration.
Neuroscience 2015; 308:51-63 (PMID: 26349009) DOI - Ouni M, Castell AL, Linglart A, Bougneres P.
Genetic and Epigenetic Modulation of Growth Hormone Sensitivity Studied With the IGF-1 Generation Test.
J Clin Endocrinol Metab 2015; 100:E919-925 (PMID: 25835289) DOI - Ouni M, Castell AL, Rothenbuhler A, Linglart A, Bougneres P.
Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature.
Clin Endocrinol (Oxf) 2015; (PMID: 26218795) DOI - Ouni M, Gunes Y, Belot MP, Castell AL, Fradin D, Bougneres P.
The IGF1 P2 promoter is an epigenetic QTL for circulating IGF1 and human growth.
Clinical Epigenetics 2015; 7:22 (PMID: 25789079) DOI - Petit-Bibal C, Rothenbuhler A, Lucchini P, Aboumrad B, Castell AL, Le Fur S, Bougneres P.
Decrease in clinical hypoglycemia in young children with type 1 diabetes treated with free-mixed aspart and detemir insulin: an open labeled randomized trial.
Pediatric Diabetes 2015; 16:345-353 (PMID: 24888575) DOI - Rothenbuhler A, Linglart A, Bougneres P.
A randomized pilot trial of growth hormone with anastrozole versus growth hormone alone, starting at the very end of puberty in adolescents with idiopathic short stature.
Int J Pediatric Endocrinol 2015; 2015:4 (PMID: 25972902) DOI - Rothenbuhler A, Ormieres B, Kalifa G, Bougneres P.
A pilot study of growth hormone administration in boys with predicted adult short stature and near-ending growth.
Growth Horm IGF Res 2015; 25:96-102 (PMID: 25641639) DOI - Zhang L, Li D, Wan H, Hao S, Wang S, Wu Z, Zhang J, Qiao H, Li P, Wang M, Su D, Schumacher M, Liu S.
Hypoglossal-facial nerve ‘side’-to-side neurorrhaphy using a predegenerated nerve autograft for facial palsy after removal of acoustic tumours at the cerebellopontine angle.
J Neurol Neurosurg Psychiatry 2015; 86:865-872 (PMID: 25228445) DOI - Guennoun R, Labombarda F, Gonzalez Deniselle MC, Liere P, De Nicola AF, Schumacher M.
Progesterone and allopregnanolone in the central nervous system: response to injury and implication for neuroprotection.
J Steroid Biochem Mol Biol 2015; 146:48-61 (PMID: 25196185) DOI - Schumacher M, Guennoun R, Mattern C, Oudinet JP, Labombarda F, De Nicola AF, Liere P.
Analytical challenges for measuring steroid responses to stress, neurodegeneration and injury in the central nervous system.
Steroids 2015; 103:42-57 (PMID: 26301525) DOI - Liere P, Schumacher M.
Mass spectrometric analysis of steroids: all that glitters is not gold.
Expert Rev Endocrinol Metab 2015; 10:463-465 - Tampellini D.
Synaptic activity and Alzheimer’s disease: a critical update.
Front Neurosci 2015; 9:423 (PMID: 26582973) DOI - Chali F, Djelti F, Eugene E, Valderrama M, Marquer C, Aubourg P, Duykaerts C, Miles R, Cartier N, Navarro V.
Inhibiting cholesterol degradation induces neuronal sclerosis and epileptic activity in mouse hippocampus.
Eur J Neurosci 2015; 41:1345-1355 (PMID: 25847620) DOI - Cobret L, De Tauzia ML, Ferent J, Traiffort E, Henaoui I, Godin F, Kellenberger E, Rognan D, Pantel J, Benedetti H, Morisset-Lopez S.
Targeting the cis-dimerization of LINGO-1 with low MW compounds affects its downstream signalling.
Br J Pharmacol 2015; 172:841-856 (PMID: 25257685) DOI - Djelti F, Braudeau J, Hudry E, Dhenain M, Varin J, Bieche I, Marquer C, Chali F, Ayciriex S, Auzeil N, Alves S, Langui D, Potier MC, Laprevote O, Vidaud M, Duyckaerts C, Miles R, Aubourg P, Cartier N.
CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer’s disease.
Brain 2015; 138:2383-2398 (PMID: 26141492) DOI - Engelen M, Barbier M, Dijkstra IM, Schur R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.
Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
Brain 2015; 138:e326 (PMID: 25149411) DOI - Rhayem Y, Le Stunff C, Abdel Khalek W, Auzan C, Bertherat J, Linglart A, Couvineau A, Silve C, Clauser E.
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
J Biol Chem 2015; 290:27816-27828 (PMID: 26405036) DOI - Zerah M, Piguet F, Colle MA, Raoul S, Deschamps JY, Deniaud J, Gautier B, Toulgoat F, Bieche I, Laurendeau I, Sondhi D, Souweidane MM, Cartier-Lacave N, Moullier P, Crystal RG, Roujeau T, Sevin C, Aubourg P.
Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates.
Human Gene Therapy Clinical Development 2015; 26:113-124 (PMID: 25758611) DOI - Aubourg P.
Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open.
Brain 2015; 138:3133-3136 (PMID: 26503938) DOI - Ferent J, Traiffort E.
Hedgehog: Multiple Paths for Multiple Roles in Shaping the Brain and Spinal Cord.
Neuroscientist 2015; 21:356-371 (PMID: 24743306) DOI - Traiffort E, Ferent J.
Neural stem cells and Notch signalling.
Medecine sciences : M/S 2015; 31:1115-1125 (PMID: 26672665) DOI - Adams D, Coelho T, Obici L, Merlini G, Mincheva Z, Suanprasert N, Bettencourt BR, Gollob JA, Gandhi PJ, Litchy WJ, Dyck PJ.
Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study.
Neurology 2015; 85:675-682 (PMID: 26208957) DOI - Algalarrondo V, Antonini T, Theaudin M, Ducot B, Lozeron P, Chemla D, Benmalek A, Lacroix C, Azoulay D, Castaing D, Cauquil C, Rouzet F, Dinanian S, Eliahou L, Le Guludec D, Samuel D, Slama MS, Adams D.
Prediction of long-term survival after liver transplantation for familial transthyretin amyloidosis.
J Am Coll Cardiol 2015; 66:2154-2156 (PMID: 26541929) DOI - Bessede T, Moszkowicz D, Alsaid B, Zaitouna M, Diallo D, Peschaud F, Benoit G, Droupy S.
Inside-out autologous vein grafts fail to restore erectile function in a rat model of cavernous nerve crush injury after nerve-sparing prostatectomy.
Int J Impot Res 2015; 27:59-62 (PMID: 25078050) DOI - Diallo D, Zaitouna M, Alsaid B, Quillard J, Ba N, Allodji RS, Benoit G, Bedretdinova D, Bessede T.
The visceromotor and somatic afferent nerves of the penis.
The Journal of Sexual Medicine 2015; 12:1120-1127 (PMID: 25689562) DOI - Peikert K, Platzek I, Bessede T, May CA.
The male bulbospongiosus muscle and its relation to the external anal sphincter.
J Urol 2015; 193:1433-1440 (PMID: 25444962) DOI - Suhr OB, Coelho T, Buades J, Pouget J, Conceicao I, Berk J, Schmidt H, Waddington-Cruz M, Campistol JM, Bettencourt BR, Vaishnaw A, Gollob J, Adams D.
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.
Orphanet journal of rare diseases 2015; 10:109 (PMID: 26338094) DOI - Urbinati G, Ali HM, Rousseau Q, Chapuis H, Desmaele D, Couvreur P, Massaad-Massade L.
Antineoplastic Effects of siRNA against TMPRSS2-ERG Junction Oncogene in Prostate Cancer.
PloS one 2015; 10:e0125277 (PMID: 25933120) DOI - Xiao FL, Gao PY, Sui BB, Wan H, Lin Y, Xue J, Zhou J, Qian TY, Wang S, Li D, Liu S.
Time-course of Changes in Activation Among Facial Nerve Injury: A Functional Imaging Study.
Medicine (Baltimore) 2015; 94:e1582 (PMID: 26512554) DOI - Yu X, Zhang J, Liu R, Wang Y, Wang H, Wang P, Chen J, Liu S.
Interstitial radiotherapy using phosphorus-32 for giant posterior fossa cystic craniopharyngiomas.
Journal of Neurosurgery Pediatrics 2015; 15:510-518 (PMID: 25679384) DOI - Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB.
Evolving landscape in the management of transthyretin amyloidosis.
Ann Med 2015; 47:625-638 (PMID: 26611723) DOI - Giustiniani J, Guillemeau K, Dounane O, Sardin E, Huvent I, Schmitt A, Hamdane M, Buee L, Landrieu I, Lippens G, Baulieu EE, Chambraud B.
The FK506-binding protein FKBP52 in vitro induces aggregation of truncated Tau forms with prion-like behavior.
FASEB J 2015; 29:3171-3181 (PMID: 25888602) DOI - Haliloglu G, Maluenda J, Sayinbatur B, Aumont C, Temucin C, Tavil B, Cetin M, Oguz KK, Gut I, Picard V, Melki J, Topaloglu H.
Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.
Neurology 2015; 84:1220-1224 (PMID: 25716358) DOI - Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerriere A, Melki J.
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Am J Hum Genet 2015; 97:616-620 (PMID: 26365340) DOI - Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Am J Hum Genet 2015; 96:955-961 (PMID: 26004201) DOI - Steichen C, Maluenda J, Tosca L, Luce E, Pineau D, Dianat N, Hannoun Z, Tachdjian G, Melki J, Dubart-Kupperschmitt A.
An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy.
Stem Cells Translational Medicine 2015; 4:224-229 (PMID: 25650439) DOI - Benachi A, Letourneau A, Kleinfinger P, Senat MV, Gautier E, Favre R, Bidat L, Houfflin-Debarge V, Bouyer J, Costa JM.
Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination.
Obstet Gynecol 2015; 125:1330-1337 (PMID: 26000504) DOI - Bouchghoul H, Senat MV, Storme L, de Lagausie P, Begue L, Khen-Dunlop N, Bouyer J, Benachi A.
Congenital diaphragmatic hernia: does gestational age at diagnosis matter when evaluating morbidity and mortality?
Am J Obstet Gynecol 2015; 213:535.e531-537 (PMID: 26070705) DOI - Chanson JB, Boehm N, Samama B, Echaniz-Laguna A, Anheim M.
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS).
J Neurol 2015; 262:226-227 (PMID: 25488474) DOI - Echaniz-Laguna A.
The shifting paradigm of Charcot-Marie-Tooth disease.
Rev Neurol (Paris) 2015; 171:498-504 (PMID: 25896909) DOI - Palamiuc L, Schlagowski A, Ngo ST, Vernay A, Dirrig-Grosch S, Henriques A, Boutillier AL, Zoll J, Echaniz-Laguna A, Loeffler JP, Rene F.
A metabolic switch toward lipid use in glycolytic muscle is an early pathologic event in a mouse model of amyotrophic lateral sclerosis.
EMBO Molecular Medicine 2015; 7:526-546 (PMID: 25820275) DOI - Gkika D, Lemonnier L, Shapovalov G, Gordienko D, Poux C, Bernardini M, Bokhobza A, Bidaux G, Degerny C, Verreman K, Guarmit B, Benahmed M, de Launoit Y, Bindels RJ, Fiorio Pla A, Prevarskaya N.
TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity.
J Cell Biol 2015; 208:89-107 (PMID: 25559186) DOI - Kropp J, Degerny C, Morozova N, Pontis J, Harel-Bellan A, Polesskaya A.
miR-98 delays skeletal muscle differentiation by down-regulating E2F5.
Biochem J 2015; 466:85-93 (PMID: 25422988) DOI - Meffre D, Shackleford G, Hichor M, Gorgievski V, Tzavara ET, Trousson A, Ghoumari AM, Deboux C, Nait Oumesmar B, Liere P, Schumacher M, Baulieu EE, Charbonnier F, Grenier J, Massaad C.
Liver X receptors alpha and beta promote myelination and remyelination in the cerebellum.
Proc Natl Acad Sci U S A 2015; 112:7587-7592 (PMID: 26023184) DOI