Results 161 to 170 of about 9,571 (221)

Akap5 links synaptic dysfunction to neuroinflammatory signaling in a mouse model of infantile neuronal ceroid lipofuscinosis. [PDF]

Front Synaptic Neurosci
Koster KP, Fyke Z, Nguyen TTA, Niqula A, Noriega-González LY, Woolfrey KM, Dell'Acqua ML, Cologna SM, Yoshii A.   +8 more
europepmc   +1 more source

Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. [PDF]

Intern Med
Nakashima S, Hamada M, Kimura T, Tanifuji S, Takahashi A, Yashita D, Kakimoto Y, Matsukawa T, Ishiura H, Toda T.   +9 more
europepmc   +1 more source

Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7). [PDF]

Cureus
Kimball TN, García-Rueda AG, Rivero-García P, Pérez-Segovia AH, Mayoral-Carrasco LE.   +4 more
europepmc   +1 more source

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2. [PDF]

Mol Syndromol
Vafaei N, Mohebbi A, Rezaei Z, Heidari M, Hosseinpour S, Dehnavi AZ, Ghamari A, Salehipour M, Rabbani A, Mahdieh N, Ashrafi MR.   +10 more
europepmc   +1 more source

Juvenile neuronal ceroid lipofuscinosis [PDF]

, 2020
openaire   +1 more source

The value of a comprehensive natural history in late infantile CLN5 disease [PDF]

, 2017
Mole, SE
core  

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa. [PDF]

Mol Genet Metab Rep
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM.   +34 more
europepmc   +1 more source

VaProS: a database-integration approach for protein/genome information retrieval [PDF]

core   +1 more source

Corrigendum to "Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa." [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]. [PDF]

Mol Genet Metab Rep
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan NS, Fernandes Carvalho ED, Fernandes Carvalho de Andrade MD, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Emilia KE, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM.   +34 more
europepmc   +1 more source

A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism. [PDF]

J Pediatr Genet
Gowda VK, K AR, Srinivasan VM, Vamyanmane DK, Srinivas SM, Chickabasaviah Y, Santhoshkumar R, Mittal P, Chikara SK, Vishwanathan GB.   +9 more
europepmc   +1 more source