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Items: 1 to 20 of 206

1.

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.

Striano P, Specchio N, Biancheri R, Cannelli N, Simonati A, Cassandrini D, Rossi A, Bruno C, Fusco L, Gaggero R, Vigevano F, Bertini E, Zara F, Santorelli FM, Striano S.

Epilepsy Behav. 2007 Feb;10(1):187-91. Epub 2006 Nov 28.

PMID:
17129765
2.

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE.

Hum Mutat. 2004 Apr;23(4):300-5.

PMID:
15024724
3.

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R.

Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5.

PMID:
19807737
4.

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM.

Neurogenetics. 2006 May;7(2):111-7. Epub 2006 Mar 29.

PMID:
16570191
5.

Studies of homogenous populations: CLN5 and CLN8.

Ranta S, Savukoski M, Santavuori P, Haltia M.

Adv Genet. 2001;45:123-40. Review.

PMID:
11332769
6.

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

Topçu M, Tan H, Yalnizoğlu D, Usubütün A, Saatçi I, Aynaci M, Anlar B, Topaloğlu H, Turanli G, Köse G, Aysun S.

Turk J Pediatr. 2004 Jan-Mar;46(1):1-10.

PMID:
15074367
7.

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.

Nat Genet. 1999 Oct;23(2):233-6.

PMID:
10508524
8.

Early-onset dementia with prolonged occipital seizures: an atypical case of Kufs disease.

Zini A, Cenacchi G, Nichelli P, Zunarelli E, Todeschini A, Meletti S.

Neurology. 2008 Nov 18;71(21):1709-12. doi: 10.1212/01.wnl.0000335164.02634.f6.

PMID:
19015486
9.

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

Lonka L, Salonen T, Siintola E, Kopra O, Lehesjoki AE, Jalanko A.

J Neurosci Res. 2004 Jun 15;76(6):862-71.

PMID:
15160397
10.

Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies.

Lauronen L, Santavuori P, Hirvasniemi A, Kirveskari E, Huttunen J, Autti T.

Eur J Paediatr Neurol. 2001;5 Suppl A:167-73.

PMID:
11588991
11.
12.

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.

Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE.

Clin Genet. 2005 Aug;68(2):167-73.

PMID:
15996215
13.

Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, Kobayashi T, Hino-Fukuyo N, Saitsu H, Kure S.

Brain Dev. 2016 Mar;38(3):341-5. doi: 10.1016/j.braindev.2015.09.008. Epub 2015 Oct 9.

PMID:
26443629
14.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.

Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.

PMID:
19201763
15.

Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India.

Sinha S, Satishchandra P, Gayathri N, Yasha TC, Shankar SK.

J Neurol Sci. 2007 Jan 15;252(1):16-23. Epub 2006 Dec 12.

PMID:
17166519
16.

[Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis].

Caraballo R, Sologuestua A, Ruggieri VL, Monges S, Cersósimo R, Taratuto AL, Medina C, Fejerman N.

Rev Neurol. 2005 Feb 1-15;40(3):135-40. Spanish.

17.

Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.

Wisniewski KE, Zhong N, Philippart M.

Neurology. 2001 Aug 28;57(4):576-81. Review.

PMID:
11548735
18.

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM.

Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018.

PMID:
19302939
19.

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

Rubboli G, Franceschetti S, Berkovic SF, Canafoglia L, Gambardella A, Dibbens LM, Riguzzi P, Campieri C, Magaudda A, Tassinari CA, Michelucci R.

Epilepsia. 2011 Dec;52(12):2356-63. doi: 10.1111/j.1528-1167.2011.03307.x. Epub 2011 Nov 2.

20.

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A.

Epilepsia. 2008 Mar;49(3):509-15. Epub 2007 Nov 21.

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