Further Description of the Phenotypic Spectrum of Neuronal Ceroid Lipofuscinosis Type 11
Paulo Ribeiro Nobrega,Anderson Rodrigues Brandao Paiva, Antonio Duarte Amorim Junior,Pedro Lucas Grangeiro Sa Barreto Lima, Katiane Sayao Souza Cabral, Isabella Peixoto Barcelos,Andre Luis Santos Pessoa, Carlos Frederico Leite Souza-Lima,Matheus Augusto Araujo Castro,Fernando Freua,Emerson de Santana Santos, Margleice Marinho Vieira Rocha,Rayana Elias Maia, Rodrigo Santos Araujo, Juan David Guevara Ramos, Rosane Guazi Resende, Gerson da Silva Carvalho, Luciana Patrizia Andrade Valen,Jose Ronaldo Lima de Carvalho Jr, Eduardo Sousa Melo,Jose Luiz Pedroso,Orlando Graziani Povoas Barsottini,Henry Houlden,Fernando Kok,David S. Lynch GENETICS IN MEDICINE（2025）
Key words
CLN11 disease,lipofuscinosis,Neuronal ceroid lipofuscinosis 11,Progranulin,GRN,GRN-related neuronal ceroid
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