Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; members of the NF France Network. Sabbagh A, et al. Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5. Hum Mol Genet. 2009. PMID: 19417008 Free PMC article.
Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
Flamand-Rouvière C, Guettard E, Moreau C, Bahi-Buisson N, Valayannopoulos V, Grabli D, Motte J, Rodriguez D, Roubertie A, Maintigneux L, Kemlin I, Ceballos-Picot I, Adams D, Vidailhet M, Roze E. Flamand-Rouvière C, et al. Among authors: kemlin i. Mov Disord. 2010 Aug 15;25(11):1605-11. doi: 10.1002/mds.23134. Mov Disord. 2010. PMID: 20629163
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study.
Sbidian E, Bastuji-Garin S, Valeyrie-Allanore L, Ferkal S, Lefaucheur JP, Drouet A, Brugière P, Vialette C, Combemale P, Barbarot S, Wolkenstein P; NF France Network. Sbidian E, et al. Orphanet J Rare Dis. 2011 Jul 13;6:51. doi: 10.1186/1750-1172-6-51. Orphanet J Rare Dis. 2011. PMID: 21752287 Free PMC article.
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.
Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, Vidaud M; NF France Network. Pasmant E, et al. J Natl Cancer Inst. 2011 Nov 16;103(22):1713-22. doi: 10.1093/jnci/djr416. Epub 2011 Oct 27. J Natl Cancer Inst. 2011. PMID: 22034633
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. Gras D, et al. Among authors: kemlin i. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24. J Neurol Neurosurg Psychiatry. 2012. PMID: 22832740
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. Lion-François L, et al. Among authors: kemlin i. Orphanet J Rare Dis. 2014 Sep 10;9:142. doi: 10.1186/s13023-014-0142-4. Orphanet J Rare Dis. 2014. PMID: 25205361 Free PMC article. Clinical Trial.
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. Blanchard G, et al. Among authors: kemlin i. Eur J Paediatr Neurol. 2016 Mar;20(2):275-281. doi: 10.1016/j.ejpn.2015.12.002. Epub 2015 Dec 17. Eur J Paediatr Neurol. 2016. PMID: 26774135 Free article.
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. Valence S, et al. Among authors: kemlin i. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
24 results