Results 101 to 110 of about 6,644 (221)

RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis

, 2008
Palmitoyl-protein thioesterase-1 (PPT1) deficiency causes infantile neuronal ceroid lipofuscinosis (INCL), a devastating childhood neurodegenerative storage disorder.
Zhang, Zhongjian, Arjun Saha, Kim, Sung-Jo, Sung-Jo Kim, Lee, Yi-Ching, Zhongjian Zhang, Mukherjee, Anil B., Yi-Ching Lee, Chinmoy Sarkar, Saha, Arjun, Pei-Chih Tsai, Anil B. Mukherjee, Sarkar, Chinmoy, Tsai, Pei-Chih   +13 more
core   +1 more source

Clinical and Pathologic Features of Neuronal Ceroid-Lipofuscinosis in a Ferret (Mustela putorius furo)

, 2011
Clinical and pathologic features of neuronal ceroid-lipofuscinosis in a 4-month-old ferret are reported. Clinical signs including neurological symptoms appeared at 3 months of age and progressed rapidly.
Y. Miwa, S. Matsunaga, K. Uchida, K. Nibe, J. K. Chambers, K. Uetsuka, H. Nakayama   +6 more
core   +1 more source

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
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Adult-onset neuronal ceroid lipofuscinosis in a smooth-haired dachshund

A 5-year-old, smooth-haired miniature dachshund exhibited a progressive history of frequent episodes of aggression towards objects, head pressing, circling and intermittent pelvic limb ataxia over a period of 2 weeks.
Gouveia, D, Foreman, M, Cloup, E
core   +1 more source

OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

, 2016
PURPOSE: To report optical coherence tomography findings obtained in two patients with juvenile neuronal ceroid lipofuscinosis.METHODS: Two case reports.RESULTS: Two 7-year-old girls presented with decreased visual acuity, clumsiness, night blindness ...
Larsen, Michael, Hove, Marianne N, Jensen, Hanne, Hansen, Michael S.   +3 more
core   +1 more source

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

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.
Mohammad Zakaria (6487532), Uzma Abdullah (6487526), Niels Tommerup (118532), Sanam Faryal (6487529), Zafar Ali (1500811), Muhammad Sher (2482012), Farid Ullah (6487535), Hassan Bukhari (6487538), Shahid Mahmood Baig (284420), Rikke S. Møller (455373), Muhammad Farooq (186443)   +10 more
core   +1 more source

Neuronal Ceroid Lipofuscinosis in a Border Collie Dog

, 2014
Neuronal ceroid lipofuscinosis is an inherited, neurodegenerative lysosomal storage disease that affects humans, dogs, sheep, horses and cattle. Border Collies are affected in an autosomal recessive manner and serve as a model for CLN5, also known as ...
Enders, Andrew M.
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Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease)

, 2013
The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases. Infantile neuronal ceroid lipofuscinosis (INCL, infantile Batten disease, or infantile CLN1 disease) is caused by a deficiency in the soluble ...
Cooper, Jonathan D., Sands, Mark S., Hawkins-Salsbury, Jacqueline A.   +2 more
core   +1 more source

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
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