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Literature DB >> 8411970

Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992.

A Kohlschütter¹, R M Gardiner, H H Goebel.

Abstract

Entities: Disease Species

Mesh：

Year: 1993 PMID： 8411970 DOI： 10.1007/bf00710254

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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7 in total

1. 4th International Symposium on the Neuronal Ceroid Lipofuscinoses (Batten's Disease). Hamburg, June 11-13, 1992. Abstracts.

Authors:
Journal: Clin Neuropathol Date: 1992 May-Jun Impact factor: 1.368

2. 3rd International Conference on the Neuronal Ceroid Lipofuscinoses (Batten disease). Indianapolis, Indiana, May 30-June 1, 1990.

Authors:
Journal: Am J Med Genet Date: 1992-02-15

3. The spectrum of Jansky-Bielschowsky disease.

Authors: P Santavuori; J Rapola; A Nuutila; R Raininko; M Lappi; J Launes; R Herva; K Sainio
Journal: Neuropediatrics Date: 1991-05 Impact factor: 1.947

Review 4. The neuronal ceroid lipofuscinoses.

Authors: P R Dyken
Journal: J Child Neurol Date: 1989-07 Impact factor: 1.987

Review 5. Adult neuronal ceroid-lipofuscinosis.

Authors: H H Goebel; H Braak
Journal: Clin Neuropathol Date: 1989 May-Jun Impact factor: 1.368

6. Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability.

Authors: A Kohlschütter; R Laabs; M Albani
Journal: Acta Paediatr Scand Date: 1988-11

Review 7. Neurological progress. The neuronal ceroid lipofuscinoses: a review.

Authors: R M Boustany; E H Kolodny
Journal: Rev Neurol (Paris) Date: 1989 Impact factor: 2.607

7 in total

17 in total

1. Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease.

Authors: M J Bennett; R L Boriack; R M Boustany
Journal: J Inherit Metab Dis Date: 1997-07 Impact factor: 4.982

2. The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.

Authors: Shannon L Macauley; Milos Pekny; Mark S Sands
Journal: J Neurosci Date: 2011-10-26 Impact factor: 6.167

3. Pharmacological Effects on Ceroid Lipofuscin and Neuronal Structure in Cln3 ^∆ex7/8 Mouse Brain Cultures.

Authors: Douglas E Brenneman; David A Pearce; Attila Kovacs; Shawn DeFrees
Journal: J Mol Neurosci Date: 2017-08-15 Impact factor: 3.444

4. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

Authors: Hanlin Gao; Rose-Mary N Boustany; Janice A Espinola; Susan L Cotman; Lakshmi Srinidhi; Kristen Auger Antonellis; Tammy Gillis; Xuebin Qin; Shumei Liu; Leah R Donahue; Roderick T Bronson; Jerry R Faust; Derek Stout; Jonathan L Haines; Terry J Lerner; Marcy E MacDonald
Journal: Am J Hum Genet Date: 2001-12-21 Impact factor: 11.025

5. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

Authors: D E Sleat; R M Gin; I Sohar; K Wisniewski; S Sklower-Brooks; R K Pullarkat; D N Palmer; T J Lerner; R M Boustany; P Uldall; A N Siakotos; R J Donnelly; P Lobel
Journal: Am J Hum Genet Date: 1999-06 Impact factor: 11.025

6. Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis.

Authors: D N Palmer; J Tyynelä; H C van Mil; V J Westlake; R D Jolly
Journal: J Inherit Metab Dis Date: 1997-03 Impact factor: 4.982

Review 10. Lithium and autophagy.

Authors: Yumiko Motoi; Kohei Shimada; Koichi Ishiguro; Nobutaka Hattori
Journal: ACS Chem Neurosci Date: 2014-04-30 Impact factor: 4.418