Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 30

1.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Alqahtani AS, Putoux A, Bonnet Dupeyron MN, Carneiro M, Lion-Francois L, Rossi M, Tevissen H, Schluth Bolard C, Labalme A, Lesca G, Till M, Edery P, Sanlaville D.

Mol Genet Genomic Med. 2019 Oct;7(10):e00939. doi: 10.1002/mgg3.939. Epub 2019 Aug 27.

2.

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-François L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M.

Epilepsia. 2019 May;60(5):845-856. doi: 10.1111/epi.14727. Epub 2019 Apr 26.

PMID:
31026061
3.

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

Pons L, Lesca G, Sanlaville D, Chatron N, Labalme A, Manel V, Arzimanoglou A, de Bellescize J, Lion-François L.

Epileptic Disord. 2018 Aug 1;20(4):289-294. doi: 10.1684/epd.2018.0988.

4.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S.

Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16.

PMID:
29506905
5.

Attention and Executive Disorders in Neurofibromatosis 1: Comparison Between NF1 With ADHD Symptomatology (NF1 + ADHD) and ADHD Per Se.

Lion-François L, Herbillon V, Peyric E, Mercier C, Gérard D, Ginhoux T, Coutinho V, Kemlin I, Kassai B, Desportes V, Michael GA.

J Atten Disord. 2017 Jun 1:1087054717707579. doi: 10.1177/1087054717707579. [Epub ahead of print]

PMID:
28587546
6.

Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1.

Chaix Y, Lauwers-Cancès V, Faure-Marie N, Gentil C, Lelong S, Schweitzer E, Rodriguez D, Iannuzzi S, Kemlin I, Dorison N, Rivier F, Carniero M, Preclaire E, Barbarot S, Lion-François L, Castelnau P.

Child Neuropsychol. 2018 May;24(4):558-574. doi: 10.1080/09297049.2017.1313970. Epub 2017 Apr 10.

PMID:
28393676
7.

Liver Transplantation in Wilson's Disease with Neurological Impairment: Evaluation in 4 Patients.

Laurencin C, Brunet AS, Dumortier J, Lion-Francois L, Thobois S, Mabrut JY, Dubois R, Woimant F, Poujois A, Guillaud O, Lachaux A, Broussolle E.

Eur Neurol. 2017;77(1-2):5-15. doi: 10.1159/000452658. Epub 2016 Nov 19.

PMID:
27866189
8.

Cognitive Abilities of Children With Neurological and Liver Forms of Wilson Disease.

Favre E, Lion-François L, Canton M, Vanlemmens C, Bonneton M, Bouillet L, Brunet AS, Lachaux A.

J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):436-439. doi: 10.1097/MPG.0000000000001346.

PMID:
27482767
9.

Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

Spitz MA, Nguyen MA, Roche S, Heron B, Milh M, de Lonlay P, Lion-François L, Testard H, Napuri S, Barth M, Fournier-Favre S, Christa L, Vianey-Saban C, Corne C, Roubertie A.

JIMD Rep. 2017;31:85-93. doi: 10.1007/8904_2016_550. Epub 2016 May 5.

10.

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.

Blanchard G, Lafforgue MP, Lion-François L, Kemlin I, Rodriguez D, Castelnau P, Carneiro M, Meyer P, Rivier F, Barbarot S, Chaix Y; NF France network.

Eur J Paediatr Neurol. 2016 Mar;20(2):275-281. doi: 10.1016/j.ejpn.2015.12.002. Epub 2015 Dec 17.

11.

The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.

Lion-François L, Gueyffier F, Mercier C, Gérard D, Herbillon V, Kemlin I, Rodriguez D, Ginhoux T, Peyric E, Coutinho V, Bréant V, des Portes V, Pinson S, Combemale P, Kassaï B; Réseau NF1 Rhône Alpes Auvergne-France.

Orphanet J Rare Dis. 2014 Sep 10;9:142. doi: 10.1186/s13023-014-0142-4.

12.

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS.

Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6.

PMID:
24415674
13.

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Poulat AL, Lesca G, Sanlaville D, Blanchard G, Lion-François L, Rougeot C, des Portes V, Ville D.

Eur J Paediatr Neurol. 2014 Mar;18(2):176-82. doi: 10.1016/j.ejpn.2013.11.005. Epub 2013 Nov 18.

PMID:
24314761
14.

Reactivity to visual signals in neurofibromatosis type 1: is everything ok?

Michael GA, Garcia S, Herbillon V, Lion-François L.

Neuropsychology. 2014 May;28(3):423-8. doi: 10.1037/neu0000046. Epub 2013 Nov 25.

PMID:
24274026
15.

Creatine and guanidinoacetate reference values in a French population.

Joncquel-Chevalier Curt M, Cheillan D, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Des Portes V, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Tardieu M, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Porchet N, Vianey-Saban C, Vamecq J.

Mol Genet Metab. 2013 Nov;110(3):263-7. doi: 10.1016/j.ymgme.2013.09.005. Epub 2013 Sep 16.

PMID:
24090707
16.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
17.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J.

Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96.

18.

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D.

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24.

PMID:
22832740
19.

[Diagnosis and care of Wilson disease with neurological revelation].

Wagner S, Brunet AS, Bost M, Lachaux A, Broussolle E, Des Portes V, Lion-François L.

Arch Pediatr. 2012 Mar;19(3):271-6. doi: 10.1016/j.arcped.2011.12.009. Epub 2012 Jan 18. French.

PMID:
22261259
20.

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.

Simkin D, Léna I, Landrieu P, Lion-François L, Sternberg D, Fontaine B, Bendahhou S.

J Physiol. 2011 Jul 1;589(Pt 13):3115-24. doi: 10.1113/jphysiol.2011.207977. Epub 2011 Apr 26.

21.

Correlation between pre- or postoperative MRI findings and cerebellar sequelae in patients with medulloblastomas.

Szathmari A, Thiesse P, Galand-desmé S, Mottolese C, Bret P, Jouanneau E, Guyotat J, Lion-François L, Frappaz D.

Pediatr Blood Cancer. 2010 Dec 15;55(7):1310-6. doi: 10.1002/pbc.22802.

PMID:
20981689
22.

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.

Lion-Francois L, Mignot C, Vicart S, Manel V, Sternberg D, Landrieu P, Lesca G, Broussolle E, Billette de Villemeur T, Napuri S, des Portes V, Fontaine B.

Neurology. 2010 Aug 17;75(7):641-5. doi: 10.1212/WNL.0b013e3181ed9e96.

PMID:
20713951
23.

[Usefulness of systematic brain magnetic resonance imaging in children with neurofibromatosis type 1].

Blanchard G, Pinson S, Rousselle C, Lorthois S, Combemale P, Bernard M, Lion Francois L.

Arch Pediatr. 2009 Dec;16(12):1527-32. doi: 10.1016/j.arcped.2009.09.014. Epub 2009 Oct 27. French.

PMID:
19864117
24.

Intellectual and visuo-spatial assessment in long-term pediatric liver transplantation for biliary atresia.

Yssaad-Fesselier R, Lion-François L, Herbillon V, Rivet C, Brunet AS, Yantren H, Bost M, Lachaux A.

Transplantation. 2009 May 15;87(9):1427-8. doi: 10.1097/TP.0b013e3181a27b58. No abstract available.

PMID:
19424048
25.

Reactivity to visual signals and the cerebellar vermis: Evidence from a rare case with rhombencephalosynapsis.

Michael GA, Garcia S, Bussy G, Lion-François L, Guibaud L.

Behav Neurosci. 2009 Feb;123(1):86-96. doi: 10.1037/a0013726.

PMID:
19170433
26.

[Acute hemiparesis revealing a neuroborreliosis in a child].

Rénard C, Marignier S, Gillet Y, Roure-Sobas C, Guibaud L, Des Portes V, Lion-François L.

Arch Pediatr. 2008 Jan;15(1):41-4. Epub 2007 Dec 26. French.

PMID:
18155890
27.

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V.

Neurology. 2006 Nov 14;67(9):1713-4. No abstract available.

PMID:
17101918
28.

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.

Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-François L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L.

Eur J Med Genet. 2006 Nov-Dec;49(6):466-71. Epub 2006 Jun 12.

PMID:
16807158
29.

[Convulsions in infants and children].

Lion-Francois L, Des Portes V.

Rev Prat. 2006 Jan 31;56(2):201-5. Review. French. No abstract available.

PMID:
16584050
30.

Acute mesencephalic stroke associated with dilated cystic perivascular spaces.

Pialat JB, Hermier M, Lion-François L, Cotton F.

Neurology. 2005 Aug 23;65(4):648. No abstract available.

PMID:
16116139

Supplemental Content

Loading ...
Support Center