(Q28511355)

25 January 2017

title

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice (English)

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25 January 2017

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GOA release 2020-03-11

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1

L. A. Pennacchio

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ORCID Public Data File 2021

Jeffrey L. Noebels

5

object named as

J. L. Noebels

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25 January 2017

D. M. Bouley

2

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25 January 2017

K. M. Higgins

3

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25 January 2017

M. P. Scott

4

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25 January 2017

R. M. Myers

6

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25 January 2017

language of work or name

English

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publication date

1 November 1998

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25 January 2017

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25 January 2017

volume

20

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25 January 2017

issue

3

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25 January 2017

page(s)

251–258

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Progressive myoclonus epilepsies: specific causes and diagnosis

25 January 2017

cites work

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7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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7 January 2021

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

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7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

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7 January 2021

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis

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7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

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7 January 2021

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

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7 January 2021

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

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7 January 2021

Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

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Lafora's disease: peroxisomal storage in skeletal muscle

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7 January 2021

The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency

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7 January 2021

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

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7 January 2021

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

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7 January 2021

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

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7 January 2021

"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin

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7 January 2021

Nomenclature and classification of the proteins homologous with the cysteine-proteinase inhibitor chicken cystatin.

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7 January 2021

The cystatins: Protein inhibitors of cysteine proteinases

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7 January 2021

Evolution of proteins of the cystatin superfamily

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7 January 2021

Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver

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7 January 2021

Cathepsin B, Cathepsin H, and cathepsin L

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7 January 2021

Proteases and proteolysis in the lysosome

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7 January 2021

Preferential action of rat brain cathepsin B as a peptidyl dipeptidase converting pro-opioid oligopeptides

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7 January 2021

Isolation and characterization of the mouse cystatin B gene

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7 January 2021

Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation

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Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings.

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Staggerer, a neurological murine mutant. An electron microscopic study of the cerebellar cortex in the adult

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Organization of cerebellar cortex secondary to deficit of granule cells in weaver mutant mice

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7 January 2021

Structural and quantitative studies on the normal C3H and Lurcher mutant mouse

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7 January 2021

Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice

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7 January 2021

Activation of a caspase 3-related cysteine protease is required for glutamate-mediated apoptosis of cultured cerebellar granule neurons

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7 January 2021

Caspases: intracellular signaling by proteolysis

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7 January 2021

Activation of pro-caspase-7 by serine proteases includes a non-canonical specificity

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7 January 2021

Protease activities in human tears

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7 January 2021

Cystatins in human tear fluid

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7 January 2021

Histochemical study of alkali-burned rabbit anterior eye segment in which severe lesions were prevented by aprotinin treatment

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7 January 2021

Plasmin in tear fluid of patients with corneal ulcers: basis for new therapy

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7 January 2021

Contact lens wear is associated with the appearance of plasmin in the tear fluid--preliminary results

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7 January 2021

TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice.

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7 January 2021

Apoptosis as the mechanism of neurodegeneration in Batten's disease.

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7 January 2021

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

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7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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7 January 2021