Results 91 to 100 of about 2,376 (188)

Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations

Stem Cell Research
The neuronal ceroid lipofuscinoses (NCLs) are a group of common inherited neurodegenerative disorders of childhood. All forms of NCLs are life-limiting with no curative treatments.
Marisa Ofrim, Daniel Little, Mina Nazari, Christopher J. Minnis, Michael J. Devine, Sara E. Mole, Paul Gissen, Maëlle Lorvellec   +7 more
doaj   +1 more source

Neuronal ceroid lipofuscinoses : many players, and more to come

, 2009
The neuronal ceroid lipofuscinoses (NCL) are the most common group of progressive neurodegenerative diseases of childhood. The overall clinical features are highly similar regardless of the age at disease manifestation, the extent and shape of abnormally
Aiello Chiara, PEZZINI, Francesco, Cannelli Natalia, Bianchi Marzia, Tessa Alessandra, SIMONATI, Alessandro, Santorelli Filippo Maria   +6 more
core   +1 more source

Late infantile neuronal ceroid lipofuscinosis: A case report Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu

, 2010
Neuronal ceroid lipofuscinoses are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death.
Özoǧul, Candan, YİŞ, ULUÇ, HIZ, AYŞE SEMRA, Dirik, Eray   +3 more
core   +1 more source

Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil Lipofuscinoses ceróides neuronais: estudo clínico e morfológico de 17 pacientes do Sul do Brasil

Arquivos de Neuro-Psiquiatria, 2000
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood.
ANA CRISTINA S PUGA, LAURA B JARDIM, LEILA CHIMELLI, CAROLINA F M DE SOUZA, MARTA CLIVATI   +4 more
doaj   +1 more source

The Neuronal Ceroid‐Lipofuscinoses. Recent Advances

Brain Pathology, 1998
The neuronal ceroid lipofuscinoses (NCLs) represent a group of neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neurons and other cells. The main childhood subtypes are infantile (INCL;CLN1), classical late infantile (LINCL;CLN2) and juvenile ...
H H, Goebel, J D, Sharp
openaire   +3 more sources

Refractory hyperactivity and Batten's disease – A Case Report

Archives of Mental Health, 2016
Attention deficit hyperactivity disorder (ADHD) is a psychiatric disorder of neurodevelopmental type characterized by inattentiveness, hyperactivity and impulsiveness.
Narayan R Mutalik, Vinayak Koparde, Devaraddi Navalli   +2 more
doaj  

The neuronal ceroid lipofuscinoses: the same, but different?

, 2010
The NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage disorders. Despite the identification of many of the disease-causing genes, very little is known about the underlying disease ...
Jonathan D. Cooper, Cooper, Jonathan D.
core   +1 more source

Neuronal ceroid lipofuscinoses type 2 and the role of nursing in the multidisciplinary approach [PDF]

, 2022
Trabajo fin de grado en EnfermeríaIntroducción: En el último siglo, las enfermedades raras han pasado de ser un tema desatendido y aislado a cobrar importancia e interés por la mayor parte de la Comunidad Europea.
López Feito, Silvia
core  

Supplemental Table3 - Supplemental material for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model

, 2019
Supplemental material, Supplemental Table3 for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model by Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B.
Judith G. Henry (6629468), Miriam S. Domowicz (6629462), Jorge Andrade (530975), Wen-Ching Chan (3170946), Christopher B. Ware (6629471), Glyn Dawson (1954762), Nancy B. Schwartz (6629474), Patricia Claudio-Vázquez (6629465)   +7 more
core   +1 more source

[Neuronal ceroid lipofuscinoses].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2006
Neuronal ceroid lipofuscinoses (NCL) is a group of degenerative neurological diseases. The diseases are autosomally recessively inherited and are characterized by the accumulation of fluorescent ceroid and lipofuscin in neuronal cells in the brain and in extraneuronal cells.
Liv Berit, Augestad, Jørgen, Diderichsen   +1 more
openaire   +1 more source