Löfgren A - Search Results

1

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P. Audenaert D, et al. Among authors: lofgren a. Neurology. 2003 Sep 23;61(6):854-6. doi: 10.1212/01.wnl.0000080362.55784.1c. Neurology. 2003. PMID: 14504340

2

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P. Claes L, et al. Among authors: lofgren a. Hum Mutat. 2003 Jun;21(6):615-21. doi: 10.1002/humu.10217. Hum Mutat. 2003. PMID: 12754708

3

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: lofgren a. Neurology. 1999 Jun 10;52(9):1827-32. doi: 10.1212/wnl.52.9.1827. Neurology. 1999. PMID: 10371530

4

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P. Ivanova N, et al. Among authors: lofgren a. Arch Neurol. 2007 May;64(5):706-13. doi: 10.1001/archneur.64.5.706. Arch Neurol. 2007. PMID: 17502470

5

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.

Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C. Timmerman V, et al. Among authors: lofgren a. Neurology. 1996 May;46(5):1311-8. doi: 10.1212/wnl.46.5.1311. Neurology. 1996. PMID: 8628473

6

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: lofgren a. Brain. 1999 Feb;122 ( Pt 2):281-90. doi: 10.1093/brain/122.2.281. Brain. 1999. PMID: 10071056

7

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

De Jonghe P, Timmerman V, Nelis E, De Vriendt E, Löfgren A, Ceuterick C, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: lofgren a. Arch Neurol. 1999 Oct;56(10):1283-8. doi: 10.1001/archneur.56.10.1283. Arch Neurol. 1999. PMID: 10520946

8

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

Dermaut B, Kumar-Singh S, De Jonghe C, Cruts M, Löfgren A, Lübke U, Cras P, Dom R, De Deyn PP, Martin JJ, Van Broeckhoven C. Dermaut B, et al. Among authors: lofgren a. Brain. 2001 Dec;124(Pt 12):2383-92. doi: 10.1093/brain/124.12.2383. Brain. 2001. PMID: 11701593

9

Patient homozygous for a recessive POLG mutation presents with features of MERRF.

Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Among authors: lofgren a. Neurology. 2003 Dec 23;61(12):1811-3. doi: 10.1212/01.wnl.0000098997.23471.65. Neurology. 2003. PMID: 14694057

10

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. Van Goethem G, et al. Among authors: lofgren a. Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83. Neurology. 2004. PMID: 15477547

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