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Items: 48

1.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S.

Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.

2.

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G.

Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb.

3.

[Acute methotrexate-related neurotoxicity and pseudo-stroke syndrome].

Deneux V, Leboucq N, Saumet L, Haouy S, Akbaraly T, Sirvent N.

Arch Pediatr. 2017 Dec;24(12):1244-1248. doi: 10.1016/j.arcped.2017.09.024. Epub 2017 Nov 14. French.

PMID:
29146215
4.

Cerebrospinal fluid volume does not have etiological role in the incidence of positional skull deformities.

Captier G, Galeron A, Subsol G, Solinhac M, Roujeau T, Leboucq N, Herlin C.

J Craniomaxillofac Surg. 2017 Sep;45(9):1387-1393. doi: 10.1016/j.jcms.2017.06.005. Epub 2017 Jun 13.

PMID:
28687466
5.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

6.

[Bilateral facial nerve palsy associated with Epstein-Barr virus infection in a 3-year-old boy].

Grassin M, Rolland A, Leboucq N, Roubertie A, Rivier F, Meyer P.

Arch Pediatr. 2017 Jun;24(6):564-567. doi: 10.1016/j.arcped.2017.03.009. Epub 2017 Apr 14. French.

PMID:
28416425
7.

Interhypothalamic adhesion and multiple cerebral abnormalities in a 2-year-old boy.

Loubet A, Dargazanli C, Joris Roux C, Rivier F, Menjot de Champfleur N, Leboucq N.

J Neuroradiol. 2017 Feb;44(1):63-64. doi: 10.1016/j.neurad.2016.09.001. Epub 2016 Nov 24. No abstract available.

8.

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.

Bessis D, Bigorre M, Malissen N, Captier G, Chiaverini C, Abasq C, Barbarot S, Boccara O, Bourrat E, El Fertit H, Eschard C, Hubiche T, Lacour JP, Leboucq N, Mahé E, Mallet S, Marque M, Martin L, Mazereeuw-Hautier J, Milla N, Phan A, Plantin P, Picot MC, Puzenat E, Rigau V, Vabres P, Fraitag S, Boralevi F; Groupe de Recherche Clinique en Dermatologie Pédiatrique.

J Am Acad Dermatol. 2017 Mar;76(3):478-487. doi: 10.1016/j.jaad.2016.08.046. Epub 2016 Oct 11. Review.

PMID:
27742172
9.

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood.

Perucca G, Leboucq N, Roubertie A, Rivier F, Menjot N, Valentini C, Bonafe A.

J Neuroradiol. 2016 Jun;43(3):176-85. doi: 10.1016/j.neurad.2016.03.006. Epub 2016 Apr 25. Review.

10.

Reversible growth failure and complete GH deficiency in a 4-year-old girl with very early Hashimoto's thyroiditis and subsequent hyperplasia of pituitary thyrotroph cells.

Gaspari L, Paris F, Leboucq N, Bonafé A, Sultan C.

Eur J Pediatr. 2016 Aug;175(8):1119-22. doi: 10.1007/s00431-016-2698-6. Epub 2016 Feb 2.

PMID:
26838584
11.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J.

Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23.

12.

Complications and follow up of subarachnoid hemorrhages.

Danière F, Gascou G, Menjot de Champfleur N, Machi P, Leboucq N, Riquelme C, Ruiz C, Bonafé A, Costalat V.

Diagn Interv Imaging. 2015 Jul-Aug;96(7-8):677-86. doi: 10.1016/j.diii.2015.05.006. Epub 2015 Jun 26. Review.

13.

Neonatal respiratory distress syndrome revealing a cervical bronchogenic cyst: a case report.

Thaller P, Blanchet C, Badr M, Mesnage R, Leboucq N, Mondain M, Cambonie G.

BMC Pediatr. 2015 Jun 27;15:72. doi: 10.1186/s12887-015-0363-2.

14.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A.

Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21.

PMID:
25901006
15.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP.

J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.

PMID:
25641387
16.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A.

J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16.

PMID:
25595153
17.

[Mitochondrial neurogastrointestinal encephalopathy disease].

Benureau A, Meyer P, Maillet O, Leboucq N, Legras S, Jeziorski E, Fournier-Favre S, Jeandel C, Gaignard P, Slama A, Rivier F, Roubertie A, Carneiro M.

Arch Pediatr. 2014 Dec;21(12):1370-4. doi: 10.1016/j.arcped.2014.08.006. Epub 2014 Oct 2. French.

PMID:
25282463
18.

Diffusion tensor imaging differentiates vascular parkinsonism from parkinsonian syndromes of degenerative origin in elderly subjects.

Deverdun J, Menjot de Champfleur S, Cabello-Aguilar S, Maury F, Molino F, Charif M, Leboucq N, Ayrignac X, Labauge P, Bonafe A, Castelnovo G, Le Bars E, Geny C, Menjot de Champfleur N.

Eur J Radiol. 2014 Nov;83(11):2074-9. doi: 10.1016/j.ejrad.2014.07.012. Epub 2014 Jul 24.

PMID:
25154005
19.

Partial acute transverse myelitis is a predictor of multiple sclerosis in children.

Meyer P, Leboucq N, Molinari N, Roubertie A, Carneiro M, Walther-Louvier U, Cuntz-Shadfar D, Leydet J, Cheminal R, Cambonie G, Echenne B, Rondouin G, Deiva K, Mikaeloff Y, Rivier F.

Mult Scler. 2014 Oct;20(11):1485-93. doi: 10.1177/1352458514526943. Epub 2014 Mar 11.

PMID:
24619933
20.

The olfactory system.

Leboucq N, Menjot de Champfleur N, Menjot de Champfleur S, Bonafé A.

Diagn Interv Imaging. 2013 Oct;94(10):985-91. doi: 10.1016/j.diii.2013.06.006. Epub 2013 Aug 7. Review.

21.

Imaging of the optic chiasm and retrochiasmal visual pathways.

Menjot de Champfleur N, Menjot de Champfleur S, Galanaud D, Leboucq N, Bonafé A.

Diagn Interv Imaging. 2013 Oct;94(10):957-71. doi: 10.1016/j.diii.2013.06.012. Epub 2013 Jul 23. Review.

22.

Imaging of the pre-chiasmatic optic nerve.

Menjot de Champfleur N, Leboucq N, Menjot de Champfleur S, Bonafé A.

Diagn Interv Imaging. 2013 Oct;94(10):973-84. doi: 10.1016/j.diii.2013.06.001. Epub 2013 Jul 4. Review.

23.

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke.

Darteyre S, Chabrier S, Presles E, Bonafé A, Roubertie A, Echenne B, Leboucq N, Rivier F.

Neurology. 2012 Dec 11;79(24):2342-8; discussion 2346. doi: 10.1212/WNL.0b013e318278b629. Epub 2012 Nov 28.

PMID:
23197751
24.

Classification and pathogenic models of unintentional postural cranial deformities in infants: plagiocephalies and brachycephalies.

Captier G, Dessauge D, Picot MC, Bigorre M, Gossard C, El Ammar J, Leboucq N.

J Craniofac Surg. 2011 Jan;22(1):33-41. doi: 10.1097/SCS.0b013e3181f6c386.

PMID:
21187780
25.

Anatomic study using three-dimensional computed tomographic scan measurement for truncal maxillary nerve blocks via the suprazygomatic route in infants.

Captier G, Dadure C, Leboucq N, Sagintaah M, Canaud N.

J Craniofac Surg. 2009 Jan;20(1):224-8. doi: 10.1097/SCS.0b013e318191d067.

PMID:
19165032
26.

[Mandibular asymmetry in plagiocephaly without synostosis].

Baumler C, Leboucq N, Captier G.

Rev Stomatol Chir Maxillofac. 2007 Nov;108(5):424-30. Epub 2007 Sep 27. French.

PMID:
17900639
27.

[Study of the morphologic variations of the scaphocephaly. Deduction for their systematisation].

Captier G, Bigorre M, Rakotoarimanana JL, Leboucq N, Montoya P.

Ann Chir Plast Esthet. 2005 Dec;50(6):715-22. Epub 2005 Aug 9. French.

PMID:
16084003
28.

Plagiocephaly: morphometry of skull base asymmetry.

Captier G, Leboucq N, Bigorre M, Canovas F, Bonnel F, Bonnafé A, Montoya P.

Surg Radiol Anat. 2003 Jul-Aug;25(3-4):226-33. Epub 2003 Sep 3.

PMID:
14504821
29.

[Clinico-radiological study of the skull deformation in the plagiocephaly without synostosis].

Captier G, Leboucq N, Bigorre M, Canovas F, Bonnel F, Bonnafé A, Montoya P.

Arch Pediatr. 2003 Mar;10(3):208-14. French.

PMID:
12829333
30.

[Imaging of oto-mandibular dysplasias].

Montoya P, Leboucq N, Bigorre M.

Ann Chir Plast Esthet. 2001 Oct;46(5):424-46. French.

PMID:
11770452
31.

[Acute myelitis of an unusual cause in a child: the lymphocytic choriomeningitis virus].

Humbertclaude V, Tourtet S, Semprino M, Roubertie A, Rivier F, Leboucq N, Astruc J, Echenne B.

Arch Pediatr. 2001 Mar;8(3):282-5. French.

PMID:
11270252
32.

[Imaging of cloverleaf skull].

Leboucq N, Montoya P, Martinez Y, Bonafé A, Castan P.

J Radiol. 2001 Jan;82(1):59-62. French.

33.

[Congenital skull depression. Report of 2 cases].

Captier G, Lebarazer M, Bigorre M, Leboucq N, Montoya P.

Ann Chir Plast Esthet. 1999 Jun;44(3):266-71. French.

PMID:
10427835
34.

[Mycoplasma pneumoniae meningoencephalitis].

Cambonie G, Sarran N, Leboucq N, Luc F, Bongrand AF, Slim G, Lassus P, Fournier-Favre S, Montoya F, Astruc J, Rieu D.

Arch Pediatr. 1999 Mar;6(3):275-8. French.

PMID:
10191893
35.

Familial Dandy-Walker malformation and leukodystrophy.

Humbertclaude VT, Coubes PA, Leboucq N, Echenne BB.

Pediatr Neurol. 1997 May;16(4):326-8.

PMID:
9258968
36.

Ito hypomelanosis and moyamoya disease.

Echenne BP, Leboucq N, Humbertclaude V.

Pediatr Neurol. 1995 Sep;13(2):169-71.

PMID:
8534285
37.

Aplasia cutis congenita of the scalp with large underlying skull defect: a case report.

Leboucq N, Montoya y Mártínez P, Montoya-Vigo F, Catan P.

Neuroradiology. 1994 Aug;36(6):480-2.

PMID:
7991097
38.

Hallervorden-Spatz syndrome and MRI: the "tiger's eye". One case.

Trussart V, Leboucq N, Carlander B, Billiard M, Castan P.

J Neuroradiol. 1993 Mar;20(1):70-5. English, French.

PMID:
8492177
39.

Lambdoid craniosynostosis. A 3D-computerized tomographic approach.

Leboucq N, Montoya P, Martinez Y, Castan P, Bourbotte G.

J Neuroradiol. 1993 Mar;20(1):24-33. English, French.

PMID:
8492173
40.

[Meningoencephalitis disclosing Behçet disease. Value of nuclear magnetic resonance imaging].

Thomas E, Bologna C, Leroux JL, Leboucq N, Carlander B, Blotman F, Billiard M, Castan P.

Rev Med Interne. 1993;14(9):860-3. French.

PMID:
8191105
41.

[3D imaging and pathology of the base of the skull in children].

Leboucq N, Montoya P, Martinez Y, Castan P.

Ann Radiol (Paris). 1992;35(6):424-9. French.

PMID:
1300083
42.

[Localization of the mandibular canal: experimental comparison of four types of radiological examination].

Torres JH, Nomdedeu H, Leboucq N.

Actual Odontostomatol (Paris). 1991 Jun;45(174):191-8. French.

PMID:
1867137
43.

Value of 3D imaging for the study of craniofacial malformations in children.

Leboucq N, Montoya P, Martinez Y, Castan P.

J Neuroradiol. 1991;18(3):225-39. English, French.

PMID:
1765809
44.

[Dura mater chondroma. A case report and review of the literature].

Sebbag M, Schmidt V, Leboucq N, Bitoun J, Castan P, Frerebeau P.

J Radiol. 1990 Aug-Sep;71(8-9):495-8. Review. French.

PMID:
2266522
45.

[X-ray computed tomography in mediastinal lymph node tuberculosis. Apropos of 3 cases].

Giron J, Senac JP, Leboucq N, Cohendy R, Aubas P, Cluzel M.

J Radiol. 1987 May;68(5):349-52. French.

PMID:
3612603
46.

The value of pulsed Doppler in cerebral haemorrhage of the newborn.

Veyrac C, Couture A, Baud C, Leboucq N.

Ann Radiol (Paris). 1987;30(7):463-9. No abstract available.

PMID:
3326501
47.

New imaging of cerebral ischaemic lesions. High frequency probes and pulsed Doppler.

Couture A, Veyrac C, Baud C, Leboucq N, Montoya F.

Ann Radiol (Paris). 1987;30(7):452-61. No abstract available.

PMID:
3326500
48.

[Ultrasonics in extradural hematoma in newborn infants].

Leboucq N, Hercot O, Baud C, Veyrac C, Couture A, Tronc F.

Pediatrie. 1987;42(1):17-20. French. No abstract available.

PMID:
3295746

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