Results 91 to 100 of about 2,498 (170)

Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

, 1993
A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described.
Martinsson, Tommy,, Wahlström, Jan,, Uvebrant, Paul,, Conradi, Nils,, Björck, Eva,, Hökegård, Klas-Henry   +5 more
core  

Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten\u27s disease).

, 1993
Pathological studies of mice homozygous for the motor neuron degeneration (Mnd) mutation show abnormalities similar to those of the human neuronal ceroid lipofuscinoses: sudanophilic, autofluorescent intraneuronal inclusions that are immunoreactive ...
Bronson, R T, Lake, B D, Taylor, S, Davisson, M T, Cook, S   +4 more
core   +1 more source

Progranulin deficiency leads to reduced glucocerebrosidase activity.

PLoS ONE, 2019
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar degeneration (FTLD) and complete loss results in neuronal ceroid lipofuscinosis (NCL)
Xiaolai Zhou, Daniel H Paushter, Mitchell D Pagan, Dongsung Kim, Mariela Nunez Santos, Raquel L Lieberman, Herman S Overkleeft, Ying Sun, Marcus B Smolka, Fenghua Hu   +9 more
doaj   +1 more source

Experimental neuronal lipofuscinosis in sheep fed with Asphodelus aestivus seeds; Pathological and ultrastructural investigations

, 2015
Asphodelus aestivus (A. aestivus) is a common plant in the meadows in Aydin region, Turkey. Severe neurologic syndromes accompanied by intense neurovisceral lipofuscinosis were observed in sheep exposed to A. aestivus leaves and seeds in the same region.
Birincioglu, S.S., Aydogan, A., Avci, H., Birincioglu, B., Chmahl, W., Epikmen, E.T., Akşit, Hasan   +6 more
core   +3 more sources

Lipofuscinosis neuronal ceroidea infantil tardía. Reporte de un caso

, 2017
Englobadas dentro de las epilepsias mioclónicas progresivas, las lipofuscinosis neuronales ceroideas son un padecimiento comúnmente pediátrico y poco frecuente de desórdenes hereditarios que conducen a regresión en el neurodesarrollo, ataxia y muerte ...
Ortega Ponce, F., Said Rana, R., Andrade Bañuelos, A., Arnold, Susan T., Jean Tron, G., Islas García, D.   +5 more
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Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

Therapeutics and Clinical Risk Management, 2020
Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Specchio N, Pietrafusa N, Trivisano M
doaj  

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

, 2019
Aim: Neuronal ceroid lipofuscinosis (NCLs) are the most common neurodegenerative disorders, with global incidence of 1 in 100,000 live births. NCLs affect central nervous system, primarily cerebellar and cerebral cortices.
Faryal, Sanam, Møller, Rikke S., Ali, Zafar, Ullah, Farid, Bukhari, Hassan, Tommerup, Niels, Farooq, Muhammad, Møller, Rikke S.; id_orcid, Baig, Shahid Mahmood, Sher, Muhammad, Zakaria, Mohammad, Abdullah, Uzma   +11 more
core   +1 more source

Juvenile neuronal ceroid-lipofuscinosis (Batten disease): A propos an unusual case diagnosed by electron microscopy

, 2004
Neuronal ceroid-lipofuscinosis, Batten disease, is a lysosomal storage disease which clinically and genetically contains heterogenity. Its differential diagnosis is very difficult with clinical and routine laboratory investigations. The authors present a
Turgut M., Aktug H., Tütüncüoglu S., Öktem G., Ateş U., Serdaroglu G., Yurtseven M., Baka M.   +7 more
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MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis

, 2020
BACKGROUND AND PURPOSE: Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by ...
X E H Baker, X Z Zhang, X A B Mukherjee, X S W Levin   +3 more
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Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update

Frontiers in Neurology, 2022
Alessandro Simonati, Ruth Elizabeth Williams, Angela Schulz   +2 more
doaj   +1 more source