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Year Number of Results
1986 1
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Page 1
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: blichfeldt s. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
Epilepsy among children in Greenland.
Blichfeldt S, Bille T, Nielsen IM, Nielsen SM. Blichfeldt S, et al. Int J Circumpolar Health. 2004;63 Suppl 2:363-5. doi: 10.3402/ijch.v63i0.17936. Int J Circumpolar Health. 2004. PMID: 15736685 Free article.
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Møller RS, et al. Among authors: blichfeldt s. Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4. Neurology. 2017. PMID: 28053010 Free PMC article.
[Benign congenital hypotonia].
Hansen FJ, Blichfeldt SS. Hansen FJ, et al. Among authors: blichfeldt ss. Ugeskr Laeger. 1997 Jun 30;159(27):4281. Ugeskr Laeger. 1997. PMID: 9229888 Danish. No abstract available.
Recommendations for the diagnosis and management of Prader-Willi syndrome.
Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Goldstone AP, et al. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. doi: 10.1210/jc.2008-0649. Epub 2008 Aug 12. J Clin Endocrinol Metab. 2008. PMID: 18697869
[Prader-Willi syndrome--clinical picture and genetics].
Schulze AH, Petersen MB, Blichfeldt SS, Kastrup KW, Brøndum-Nielsen K. Schulze AH, et al. Among authors: blichfeldt ss. Ugeskr Laeger. 1995 Mar 13;157(11):1513-9. Ugeskr Laeger. 1995. PMID: 7725549 Review. Danish.
Biotinidase deficiency: two cases of very early presentation.
Haagerup A, Andersen JB, Blichfeldt S, Christensen MF. Haagerup A, et al. Among authors: blichfeldt s. Dev Med Child Neurol. 1997 Dec;39(12):832-5. doi: 10.1111/j.1469-8749.1997.tb07553.x. Dev Med Child Neurol. 1997. PMID: 9433861 Free article.
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of EuroEPINOMICS RES Consortium; Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS. Larsen J, et al. Among authors: blichfeldt s. Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5. Epilepsia. 2015. PMID: 26537434
23 results