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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

146 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Syrbe S, et al. Among authors: burglen l. Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. Brain. 2017. PMID: 29050398 Free PMC article.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: burglen l. Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. Nat Commun. 2023. PMID: 37322043 Free PMC article. No abstract available.
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D. Afenjar A, et al. Among authors: burglen l. Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6. Brain Dev. 2007. PMID: 17412540
Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.
Mignot C, Desguerre I, Burglen L, Hertz-Pannier L, Renaldo F, Gadisseux JF, Gallet S, Pham-Dinh D, Boespflug-Tanguy O, Rodriguez D. Mignot C, et al. Among authors: burglen l. Brain Dev. 2009 Mar;31(3):244-7. doi: 10.1016/j.braindev.2008.05.005. Epub 2008 Jun 26. Brain Dev. 2009. PMID: 18584981
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: burglen l. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, Devos D, Moreau C, de Lonlay P, Drouot N, Burglen L, Kempf N, Nourisson E, Chantot-Bastaraud S, Lebre AS, Rio M, Chaix Y, Bieth E, Roze E, Bonnet I, Canaple S, Rastel C, Brice A, Rötig A, Desguerre I, Tranchant C, Koenig M, Anheim M. Mignot C, et al. Among authors: burglen l. Orphanet J Rare Dis. 2013 Oct 28;8:173. doi: 10.1186/1750-1172-8-173. Orphanet J Rare Dis. 2013. PMID: 24164873 Free PMC article.
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A. Coutelier M, et al. Among authors: burglen l. Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3. Neurology. 2015. PMID: 25841024
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. Mallaret M, et al. Among authors: burglen l. J Neurol. 2016 Jul;263(7):1314-22. doi: 10.1007/s00415-016-8112-5. Epub 2016 May 3. J Neurol. 2016. PMID: 27142713
146 results