A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis

Neurology Genetics ◽

10.1212/nxg.0000000000000302 ◽

2019 ◽

Vol 5 (3) ◽

pp. e302 ◽

Author(s):

Jineesh Thottath ◽

Shamsudheen Karuthedath Vellarikkal ◽

Rijith Jayarajan ◽

Ankit Verma ◽

Manu Manamel ◽

...

Keyword(s):

Cathepsin D ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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VARIANT LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS – A NOVEL C>G MISSENSE MUTATION AT THE CLN8 GENE – THE FIRST CASE OUTSIDE FINLAND OR TURKEY

Neuropediatrics ◽

10.1055/s-2006-943686 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

N Zelnik ◽

M Mahajnah ◽

TC Iancu ◽

M Ziegler

Keyword(s):

Missense Mutation ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

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

Pediatric and Developmental Pathology ◽

10.2350/07-03-0242 ◽

2006 ◽

Vol preprint (2007) ◽

pp. 1

Author(s):

Nancy Galvin ◽

Carole Vogler ◽

Beth Levy ◽

Attila Kovacs ◽

Megan Griffey ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Murine Model ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

The Central Nervous System

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218. Gene Therapy and Enzyme Replacement in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Molecular Therapy ◽

10.1016/j.ymthe.2006.08.243 ◽

2006 ◽

Vol 13 ◽

pp. S84

Author(s):

Michael Chang ◽

David Sleat ◽

Seng Cheng ◽

Marco Passini ◽

Peter Lobel ◽

...

Keyword(s):

Gene Therapy ◽

Mouse Model ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Enzyme Replacement ◽

Ceroid Lipofuscinosis

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Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

Prenatal Diagnosis ◽

10.1002/(sici)1097-0223(199907)19:7<685::aid-pd603>3.0.co;2-f ◽

1999 ◽

Vol 19 (7) ◽

pp. 685-688 ◽

Author(s):

Juhani Rapola ◽

Jaana Lähdetie ◽

Juha Isosomppi ◽

Päivi Helminen ◽

Maila Penttinen ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis

Genes Brain & Behavior ◽

10.1111/j.1601-183x.2011.00718.x ◽

2011 ◽

Vol 10 (7) ◽

pp. 798-804 ◽

Author(s):

D. N. Sanders ◽

S. Kanazono ◽

F. A. Wininger ◽

R. E. H. Whiting ◽

C. A. Flournoy ◽

...

Keyword(s):

Reversal Learning ◽

Cognitive Deficits ◽

Neuronal Ceroid Lipofuscinosis ◽

Learning Task ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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Refined Assignment of the Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1) Locus at 1p32: Incorporation of Linkage Disequilibrium in Multipoint Analysis

Genomics ◽

10.1006/geno.1993.1253 ◽

1993 ◽

Vol 16 (3) ◽

pp. 720-725 ◽

Author(s):

Elina Hellsten ◽

Jouni Vesa ◽

Marcy C. Speer ◽

Tomi P. Mäkelä ◽

Irma Järvelä ◽

...

Keyword(s):

Linkage Disequilibrium ◽

Neuronal Ceroid Lipofuscinosis ◽

Multipoint Analysis ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

Prenatal Diagnosis ◽

10.1002/1097-0223(200102)21:2<99::aid-pd988>3.0.co;2-f ◽

2001 ◽

Vol 21 (2) ◽

pp. 99-101 ◽

Author(s):

W. J. Kleijer ◽

O. P. van Diggelen ◽

J. L. M. Keulemans ◽

M. Losekoot ◽

V. H. Garritsen ◽

...

Keyword(s):

Mutation Analysis ◽

Neuronal Ceroid Lipofuscinosis ◽

First Trimester ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Tripeptidyl Peptidase

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Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)

Scientific Reports ◽

10.1038/s41598-018-33449-0 ◽

2018 ◽

Vol 8 (1) ◽

Author(s):

Miriam Sindelar ◽

Jonathan P. Dyke ◽

Ruba S. Deeb ◽

Dolan Sondhi ◽

Stephen M. Kaminsky ◽

...

Keyword(s):

Cerebrospinal Fluid ◽

Metabolite Profiling ◽

Neuronal Ceroid Lipofuscinosis ◽

Batten Disease ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Untargeted Metabolite Profiling

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A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report

BMC Medical Genetics ◽

10.1186/s12881-018-0690-x ◽

2018 ◽

Vol 19 (1) ◽

Author(s):

Guilian Sun ◽

Fang Yao ◽

Zhuoling Tian ◽

Tianjiao Ma ◽

Zhiliang Yang

Keyword(s):

Case Report ◽

Neuronal Ceroid Lipofuscinosis ◽

Homozygous Mutation ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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Diagnosis of late infantile neuronal “ceroid-lipofuscinosis” from histochemical and ultrastructural changes in dental pulp

Oral Surgery Oral Medicine Oral Pathology ◽

10.1016/0030-4220(84)90185-3 ◽

1984 ◽

Vol 57 (3) ◽

pp. 294-299 ◽

Author(s):

Carl J. Witkop ◽

Bruce Cutler ◽

Lawrence A. Lockman

Keyword(s):

Dental Pulp ◽

Neuronal Ceroid Lipofuscinosis ◽

Ultrastructural Changes ◽

Infantile Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

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