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Items: 1 to 50 of 111

1.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Rivière JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P, Geneviève D.

Eur J Hum Genet. 2019 Jul 8. doi: 10.1038/s41431-019-0433-2. [Epub ahead of print]

PMID:
31285529
2.

Cognitive impairment in children with CACNA1A mutations.

Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium.

Dev Med Child Neurol. 2019 May 21. doi: 10.1111/dmcn.14261. [Epub ahead of print]

PMID:
31115040
3.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, Nougues MC, Ioos C, Rougeot C, Masurel A, Bourjault C, Ginglinger E, Prieur F, Siri A, Bordigoni P, Nguyen K, Philippe N, Bellesme C, Demeocq F, Altuzarra C, Mathieu-Dramard M, Couderc F, Dörk T, Auger N, Parfait B, Abidallah K, Moncoutier V, Collet A, Stoppa-Lyonnet D, Stern MH.

Hum Mutat. 2019 May 3. doi: 10.1002/humu.23778. [Epub ahead of print]

PMID:
31050087
4.

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y.

PMID:
30783266
5.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ.

N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. No abstract available.

6.

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

Kuchenbuch M, Benquet P, Kaminska A, Roubertie A, Carme E, de Saint Martin A, Hirsch E, Dubois F, Laroche C, Barcia G, Chemaly N, Milh M, Villeneuve N, Sauleau P, Modolo J, Wendling F, Nabbout R.

Epilepsia. 2019 Jan;60(1):20-32. doi: 10.1111/epi.14605. Epub 2018 Dec 7.

PMID:
30525185
7.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Erratum in: Genet Med. 2019 Feb 20;:.

PMID:
30356099
8.

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

Koy A, Cirak S, Gonzalez V, Becker K, Roujeau T, Milesi C, Baleine J, Cambonie G, Boularan A, Greco F, Perrigault PF, Cances C, Dorison N, Doummar D, Roubertie A, Beroud C, Körber F, Stüve B, Waltz S, Mignot C, Nava C, Maarouf M, Coubes P, Cif L.

J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.

PMID:
30103967
9.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L.

Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12.

PMID:
29997391
10.

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.

Humbertclaude V, Krams B, Nogue E, Nagot N, Annequin D, Tourniaire B, Tournier-Lasserve E, Riant F, Roubertie A; Episodic Syndromes Consortium.

Dev Med Child Neurol. 2018 Dec;60(12):1256-1263. doi: 10.1111/dmcn.13935. Epub 2018 Jun 21.

PMID:
29926469
11.

Deep brain stimulation treated dystonia-trajectory via status dystonicus.

Nerrant E, Gonzalez V, Milesi C, Vasques X, Ruge D, Roujeau T, De Antonio Rubio I, Cyprien F, Seng EC, Demailly D, Roubertie A, Boularan A, Greco F, Perrigault PF, Cambonie G, Coubes P, Cif L.

Mov Disord. 2018 Jul;33(7):1168-1173. doi: 10.1002/mds.27357. Epub 2018 May 22.

PMID:
29786895
12.

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.

13.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P.

J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27. Review.

PMID:
28954837
14.

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.

15.

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

Habarou F, Bahi-Buisson N, Lebigot E, Pontoizeau C, Abi-Warde MT, Brassier A, Le Quan Sang KH, Broissand C, Vuillaumier-Barrot S, Roubertie A, Boutron A, Ottolenghi C, de Lonlay P.

JIMD Rep. 2018;38:53-59. doi: 10.1007/8904_2017_30. Epub 2017 May 17.

16.

Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.

Malissen N, Vergely L, Simon M, Roubertie A, Malinge MC, Bessis D.

J Am Acad Dermatol. 2017 Sep;77(3):464-472.e3. doi: 10.1016/j.jaad.2017.04.005. Epub 2017 May 11.

PMID:
28502378
17.

[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
18.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.

Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.

19.

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP.

Ophthalmology. 2016 Sep;123(9):1989-98. doi: 10.1016/j.ophtha.2016.05.036. Epub 2016 Jul 7.

PMID:
27395765
20.

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.

Miltgen M, Blanchard A, Mathieu H, Kreisler A, Jean-Pierre-Desvignes, Salgado D, Roubertie A, Barre L, Rai G, Blanck V, Frederic M, Douay X, Mazzolenni R, Charpentier P, Gonzalez V, Destée A, Béroud C, Collod-Béroud G.

Mov Disord. 2016 Aug;31(8):1251-2. doi: 10.1002/mds.26717. Epub 2016 Jul 9. No abstract available.

21.

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.

22.

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.

PMID:
27126632
23.

Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.

Lagarde S, Villeneuve N, Trébuchon A, Kaphan E, Lepine A, McGonigal A, Roubertie A, Barthez MA, Trommsdorff V, Lefranc J, Wehbi S, des Portes V, Laguitton V, Quartier P, Scavarda D, Giusiano B, Milh M, Bulteau C, Bartolomei F.

Epilepsia. 2016 Jun;57(6):956-66. doi: 10.1111/epi.13387. Epub 2016 Apr 22.

24.

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

Devaux J, Abidi A, Roubertie A, Molinari F, Becq H, Lacoste C, Villard L, Milh M, Aniksztejn L.

Epilepsia. 2016 May;57(5):e87-93. doi: 10.1111/epi.13366. Epub 2016 Mar 31.

25.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

26.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G.

Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Erratum in: Am J Hum Genet. 2015 Nov 5;97(5):769.

27.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Charif M, Roubertie A, Salime S, Mamouni S, Goizet C, Hamel CP, Lenaers G.

Front Genet. 2015 Oct 19;6:311. doi: 10.3389/fgene.2015.00311. eCollection 2015.

28.

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E.

J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3.

29.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.

Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.

30.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N.

Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17.

PMID:
26193382
31.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP.

Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10.

PMID:
26061759
32.

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
33.

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
34.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

35.

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
36.

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V.

Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Review.

PMID:
25425167
37.

[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
38.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB.

Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006.

39.

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
40.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ.

Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

41.

Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.

Marque M, Roubertie A, Jaussent A, Carneiro M, Meunier L, Guillot B, Pinson L, Pinson S, Bessis D.

J Am Acad Dermatol. 2013 Nov;69(5):768-775. doi: 10.1016/j.jaad.2013.06.039. Epub 2013 Aug 21.

PMID:
23972508
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L.

Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.

43.

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association?

Bohrer S, De La Villeon G, Carneiro M, Fernandez C, Garbi D, Mace L, Milh M, Guillaumont S, Echenne B, Honnorat J, Roubertie A.

Mov Disord. 2013 Feb;28(2):250-2. doi: 10.1002/mds.25274. Epub 2012 Dec 12. No abstract available.

PMID:
23238994
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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
45.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P.

Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17.

46.

Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.

Quelin C, Saillour Y, Poirier K, Roubertie A, Boddaert N, Desguerre I, Letourneur F, Beldjord C, Chelly J, Bahi-Buisson N.

Eur J Med Genet. 2012 Oct;55(10):527-30. doi: 10.1016/j.ejmg.2012.06.004. Epub 2012 Jul 2.

PMID:
22766001
47.

Status dystonicus: predictors of outcome and progression patterns of underlying disease.

Fasano A, Ricciardi L, Bentivoglio AR, Canavese C, Zorzi G, Petrovic I, Kresojevic N, Kostić VS, Svetel M, Kovacs N, Balas I, Roubertie A, Mishra D, Mariotti P, Temudo T, Nardocci N.

Mov Disord. 2012 May;27(6):783-8. doi: 10.1002/mds.24981. Epub 2012 Apr 6.

PMID:
22488948
48.

Treatment for dystonia in childhood.

Roubertie A, Mariani LL, Fernandez-Alvarez E, Doummar D, Roze E.

Eur J Neurol. 2012 Oct;19(10):1292-9. doi: 10.1111/j.1468-1331.2011.03649.x. Epub 2012 Jan 31. Review.

PMID:
22289078
49.

[Genetic syndromes that mimic congenital infections: report of 2 cases].

Thibault M, Leydet J, Tournier-Lasserve E, Crow YJ, Rivier F, Echenne B, Langlois C, Daudet H, Sarda P, Roubertie A.

Arch Pediatr. 2011 Dec;18(12):1297-1301. doi: 10.1016/j.arcped.2011.08.009. Epub 2011 Oct 2. French.

PMID:
21963371
50.

Perfusion-weighted MR imaging in persistent hemiplegic migraine.

Mourand I, Menjot de Champfleur N, Carra-Dallière C, Le Bars E, Roubertie A, Bonafé A, Thouvenot E.

Neuroradiology. 2012 Mar;54(3):255-60. doi: 10.1007/s00234-011-0946-z. Epub 2011 Aug 11.

PMID:
21833737

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