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Results: 1 to 20 of 113

Similar articles for PubMed (Select 24997880)

1.

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.

Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB.

Lancet Neurol. 2014 Aug;13(8):777-87. doi: 10.1016/S1474-4422(14)70142-5. Epub 2014 Jul 2.

2.

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
3.

The neuronal ceroid-lipofuscinoses.

Goebel HH.

J Child Neurol. 1995 Nov;10(6):424-37. Review.

PMID:
8576551
4.

The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.

Miller JN, Kovács AD, Pearce DA.

Hum Mol Genet. 2015 Jan 1;24(1):185-96. doi: 10.1093/hmg/ddu428. Epub 2014 Sep 8.

PMID:
25205113
5.

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.

Pediatr Neurol. 2009 Oct;41(4):297-300. doi: 10.1016/j.pediatrneurol.2009.04.022.

PMID:
19748052
6.

A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.

Miller JN, Pearce DA.

J Child Neurol. 2013 Sep;28(9):1106-11. doi: 10.1177/0883073813494267. Epub 2013 Jul 14. Erratum in: J Child Neurol. 2014 May;29(5):NP1.

PMID:
23857568
7.

Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR.

Vanhanen SL, Raininko R, Santavuori P.

AJNR Am J Neuroradiol. 1994 Sep;15(8):1443-53.

PMID:
7985561
8.

Novel neuroimaging finding in palmitoyl protein thioesterase-1-related neuronal ceroid lipofuscinosis.

Kamate M, Hattiholi V.

Pediatr Neurol. 2012 May;46(5):325-8. doi: 10.1016/j.pediatrneurol.2012.02.021.

PMID:
22520356
9.

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).

Hawkins-Salsbury JA, Cooper JD, Sands MS.

Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 10.1016/j.bbadis.2013.05.026. Epub 2013 Jun 6. Review.

10.

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.

de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.

J Child Neurol. 2004 Jan;19(1):42-6.

PMID:
15032383
11.

Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

Sands MS.

J Child Neurol. 2013 Sep;28(9):1151-8. doi: 10.1177/0883073813495960.

12.

Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses.

Kamate M, Prashanth GP, Hattiholi V.

Neurol India. 2012 May-Jun;60(3):316-20. doi: 10.4103/0028-3886.98524.

13.

Neurological deterioration in late infantile neuronal ceroid lipofuscinosis.

Worgall S, Kekatpure MV, Heier L, Ballon D, Dyke JP, Shungu D, Mao X, Kosofsky B, Kaplitt MG, Souweidane MM, Sondhi D, Hackett NR, Hollmann C, Crystal RG.

Neurology. 2007 Aug 7;69(6):521-35.

PMID:
17679671
14.

A murine model of infantile neuronal ceroid lipofuscinosis-ultrastructural evaluation of storage in the central nervous system and viscera.

Galvin N, Vogler C, Levy B, Kovacs A, Griffey M, Sands MS.

Pediatr Dev Pathol. 2008 May-Jun;11(3):185-92. Epub 2007 May 23.

15.

Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.

Tokola AM, Salli EK, Åberg LE, Autti TH.

Pediatr Neurol. 2014 Feb;50(2):158-63. doi: 10.1016/j.pediatrneurol.2013.10.013. Epub 2013 Oct 30.

PMID:
24411222
16.

Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease.

Vanhanen SL, Puranen J, Autti T, Raininko R, Liewendahl K, Nikkinen P, Santavuori P, Suominen P, Vuori K, Häkkinen AM.

Neuropediatrics. 2004 Feb;35(1):27-35.

PMID:
15002049
17.

Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis.

Levin SW, Baker EH, Gropman A, Quezado Z, Miao N, Zhang Z, Jollands A, Di Capua M, Caruso R, Mukherjee AB.

Arch Neurol. 2009 Dec;66(12):1567-71. doi: 10.1001/archneurol.2009.263.

18.

Localized proton magnetic resonance spectroscopy of cerebral metabolic disturbances in children with neuronal ceroid lipofuscinosis.

Brockmann K, Pouwels PJ, Christen HJ, Frahm J, Hanefeld F.

Neuropediatrics. 1996 Oct;27(5):242-8.

PMID:
8971744
19.

MRI of the brain, EEG sleep spindles and SPECT in the early diagnosis of infantile neuronal ceroid lipofuscinosis.

Santavuori P, Raininko R, Vanhanen SL, Launes J, Sainio K.

Dev Med Child Neurol. 1992 Jan;34(1):61-5.

PMID:
1544516
20.

Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis.

Lönnqvist T, Vanhanen SL, Vettenranta K, Autti T, Rapola J, Santavuori P, Saarinen-Pihkala UM.

Neurology. 2001 Oct 23;57(8):1411-6.

PMID:
11673581
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