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Items: 1 to 20 of 115

1.

Freezing of gait--first motor manifestation in late infantile variant neuronal ceroid lipofuscinosis.

Damásio J, Taipa R, Melo-Pires M, Guimarães A, Bhatia KP, Santos M, Carrilho I.

Parkinsonism Relat Disord. 2014 Feb;20(2):243-4. doi: 10.1016/j.parkreldis.2013.10.015. Epub 2013 Oct 23. No abstract available.

PMID:
24188967
2.

Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.

Koul R, Al-Futaisi A, Ganesh A, Rangnath Bushnarmuth S.

J Child Neurol. 2007 May;22(5):555-9.

PMID:
17690061
3.

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
4.

Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.

Peña JA, Cardozo JJ, Montiel CM, Molina OM, Boustany R.

Pediatr Neurol. 2001 Jul;25(1):78-80.

PMID:
11483403
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.

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.

Al-Muhaizea MA, Al-Hassnan ZN, Chedrawi A.

Pediatr Neurol. 2009 Jul;41(1):74-6. doi: 10.1016/j.pediatrneurol.2009.01.012. Review.

PMID:
19520283
7.

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.

Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R.

J Child Neurol. 2011 May;26(5):625-9. doi: 10.1177/0883073810387298. Epub 2011 Mar 29.

PMID:
21447811
8.

Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes.

Jadav RH, Sinha S, Yasha TC, Aravinda H, Gayathri N, Rao S, Bindu PS, Satishchandra P.

Pediatr Neurol. 2014 Jan;50(1):85-95. doi: 10.1016/j.pediatrneurol.2013.08.008. Epub 2013 Oct 10.

PMID:
24120650
9.

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

Kohan R, Cannelli N, Aiello C, Santorelli FM, Cismondi AI, Milà M, Oller Ramírez AM, Halac IN.

Hum Genet. 2008 Jun;123(5):552. No abstract available.

PMID:
20960652
10.
11.

Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from southern Brazil.

Puga AC, Jardim LB, Chimelli L, De Souza CF, Clivati M.

Arq Neuropsiquiatr. 2000 Sep;58(3A):597-606.

12.

Regional brain atrophy in mouse models of neuronal ceroid lipofuscinosis: a new rostrocaudal perspective.

Kühl TG, Dihanich S, Wong AM, Cooper JD.

J Child Neurol. 2013 Sep;28(9):1117-22. doi: 10.1177/0883073813494479.

PMID:
24014506
13.

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.

Allen NM, O'hIci B, Anderson G, Nestor T, Lynch SA, King MD.

Clin Genet. 2012 Jun;81(6):602-4. doi: 10.1111/j.1399-0004.2011.01777.x. Epub 2011 Dec 28. No abstract available.

PMID:
22220808
14.

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.

Cismondi IA, Cannelli N, Aiello C, Santorelli FM, Kohan R, Oller Ramírez AM, Halac IN.

Hum Genet. 2008 Jun;123(5):554. No abstract available.

PMID:
20960661
15.

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
16.

Ultrastructural investigations in late infantile type of ceroid lipofuscinosis (Jansky-Bielschowsky).

László A, Bozóky B, Janáky M, Pelle Z, Oroszlán G.

Acta Paediatr Hung. 1991;31(4):433-42.

PMID:
1790026
17.

Hippocampal lesions in the neuronal ceroid lipofuscinoses.

Haltia M, Herva R, Suopanki J, Baumann M, Tyynelä J.

Eur J Paediatr Neurol. 2001;5 Suppl A:209-11.

PMID:
11588999
18.

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.

19.

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Simonati A, Williams RE, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro F, Pezzini F, Santorelli FM.

Dev Med Child Neurol. 2017 Aug;59(8):815-821. doi: 10.1111/dmcn.13473. Epub 2017 May 25.

PMID:
28542837
20.

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM.

Neuropediatrics. 2007 Feb;38(1):46-9.

PMID:
17607606

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