Results 81 to 90 of about 4,597 (153)

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients

Scientific Reports
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rapidly progressive neurodegenerative disorder leading to premature mortality. Ambulatory CLN2 patients typically receive standard of care treatment through biweekly intracerebroventricular (ICV) enzyme ...
Rahul Soangra, Marybeth Grant-Beuttler, Harriet Chang, Raymond Y. Wang   +3 more
doaj   +1 more source

Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid

Cellular & Molecular Biology Letters
Background Lysosomal storage disorders (LSDs) are rare inherited diseases caused by mutations in genes encoding lysosomal proteins, leading to substrate accumulation and lysosomal dysfunction.
Edouard Le Guillou, Arianna Segaloni, Alexis Gadault, Catia Oliveira Dias, Nathaniel F. Henneman, Min Su, Ivan Nemazanyy, Nesrine Hifdi, Valérie Nivet-Antoine, Michael Laemmerhofer, Karim Hnia, Catherine Caillaud, Ganna Panasyuk   +12 more
doaj   +1 more source

Assessment of motor deterioration in a cynomolgus macaque with neuronal ceroid lipofuscinosis type 2 disease using two behavioral analyses. [PDF]

J Vet Med Sci
Munesue Y, Ono F, Ageyama N, Yagami KI, Ishii K, Tamaoka A, Yasutomi Y, Shimozawa N.   +7 more
europepmc   +1 more source

Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. [PDF]

Childs Nerv Syst
Boop S, Nistal D, Barrios-Anderson A, Cherny WB, Chang IJ, Shelkowitz E, Kho T, Goldstein HE, Hauptman J.   +8 more
europepmc   +1 more source

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. [PDF]

Lancet Child Adolesc Health, 2018
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A.   +15 more
europepmc   +1 more source

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report. [PDF]

Yonago Acta Med
Tsuchie H, Kawanami Y, Yoshino G, Okanishi T, Maegaki Y.   +4 more
europepmc   +1 more source

Naturally occurring lysosomal storage disease consistent with neuronal ceroid lipofuscinosis in a group of 5 related captive rhesus macaques (<i>Macaca mulatta</i>). [PDF]

Vet Pathol
Olstad K, Pastenkos G, Barrera-Zarate J, Kanthaswamy S, Sammak R, Lemoy MJ.   +5 more
europepmc   +1 more source

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls. [PDF]

Genes (Basel)
Cipriano L, Petillo R, Priolo M, D'Ambrosio P.   +3 more
europepmc   +1 more source

Efficacy and Safety of Cerliponase Alpha Therapy in Neuronal Ceroid Lipofuscinosis Type 2

, 2022
Serdaroğlu, Esra, Karaca, Nazlı Balcan, Arhan, EBRU, Hırfanoğlu, Tuğba, Kılıç, Recep Kamil, Cankurt, İlknur, Börcek, Alp Özgün, Demir, Ercan, Gücüyener, Kıvılcım, Serdaroğlu, Ayşe, Menderes, Deniz, Endürlük, Sebla, Atalay, Tuğba, Akbaş, Salih   +13 more
openaire   +1 more source

Morphometric Brain Changes in a Merino Sheep (<i>Ovis aries</i>) CLN6 Neuronal Ceroid Lipofuscinosis Model. [PDF]

Biology (Basel)
Nanni A, Elcombe E, Cheung MHM, Stait-Gardner T, Gimeno M, Tammen I, Keller MD.   +6 more
europepmc   +1 more source