Results 41 to 50 of about 2,376 (188)

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

BMC Medical Genetics, 2020
Background Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure ...
Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen   +10 more
doaj   +1 more source

Haematopoietic development and immunological function in the absence of cathepsin D [PDF]

, 2007
Background: Cathepsin D is a well-characterized aspartic protease expressed ubiquitously in lysosomes. Cathepsin D deficiency is associated with a spectrum of pathologies leading ultimately to death.
Calogero Tulone, Chain Benjamin M, Grosvenor Nicholas, Saftig, P, Marco Novelli, Uchiyama Yasuo, Novelli Marco, Saftig Paul, Chain, BM, Benjamin M Chain, Paul Saftig, Tulone, C, Nicholas Grosvenor, Yasuo Uchiyama, Uchiyama, Y, Tulone Calogero, Novelli, M, Grosvenor, N   +17 more
core   +1 more source

An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation [PDF]

Caspian Journal of Neurological Sciences, 2023
Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14).
Shahin Koohmanaee, Seyyedeh Azadeh Hoseini Nouri , Vahid Aminzadeh, Manijeh Tabrizi, Reza Bayat, Fatemeh Kharaee , Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Ehsan Kazemnejad Leili   +10 more
doaj  

Progressive retinal degeneration and glial activation in the Cln6nclf mouse model of neuronal ceroid lipofuscinosis : a beneficial effect of DHA and Curcumin supplementation

, 2013
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.
Monica Langiu, Myriam Mirza, Langiu, Monica, Tamm, Ernst R., Mirza, Myriam, Langmann, Thomas, Ernst R. Tamm, Aleksandra Somogyi, Marcus Karlstetter, Mika O. Ruonala, Volz, Cornelia, Jägle, Herbert, Herbert Jägle, Ernst R Tamm, Somogyi, Aleksandra, Cornelia Volz, Thomas Langmann, Mika O Ruonala, Karlstetter, Marcus, Ruonala, Mika O.   +19 more
core   +1 more source

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Data in Brief, 2016
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1].
Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen   +3 more
doaj   +1 more source

Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses [PDF]

, 2019
The Neuronal Ceroid Lipofuscinoses are a group of severe and progressive neurodegenerative disorders, which generally present during childhood. With new treatments emerging on the horizon, there is a growing need to understand the specific disease ...
Kline, RA, Kline, Rachel, Wishart, TM, Heywood, WE, Wishart, Thomas, Mills, K, Heywood, Wendy E, Mills, Kevin   +7 more
core   +1 more source

Late infantile neuronal ceroid lipofuscinosis with epilepsy as the first symptom: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
DOI: 10.3969/j.issn.1672-6731.2018.06 ...
Jing XIAO
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than
Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen   +5 more
doaj   +1 more source