HDL2 JPH3

Orphanet: Huntington disease-like 2

David G.,Anderson, Amanda,Krause, Russell L.,Margolis

West-Central African Ancestry of the Repeat-Expansion Founder Mutation on the JPH3 Gene in Mexican Patients With Huntington's Disease-Like 2.

Miguel Ángel,Ramírez-García, Petra,Yescas-Gómez, Julio César Misael,Monroy-González, María Teresa,Villarreal-Molina, Karina,Díaz-Barba, Luis Rodrigo,Macias-Kauffer, Gabriela,Castañeda-López, Sandra,Romero-Hidalgo

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

S E,Holmes, E,O'Hearn, A,Rosenblatt, C,Callahan, H S,Hwang, R G,Ingersoll-Ashworth, A,Fleisher, G,Stevanin, A,Brice, N T,Potter, C A,Ross, R L,Margolis

Huntington's disease-like 2 patients' profile in a Brazilian cohort.

Dayany Leonel,Boone, Vitor,Tumas, Gabriel,Vilela, Vanderci,Borges, Roberta Arb Saba,Rodrigues Pinto, Mariana Cavalcanti,Costa, Henrique Ballalai,Ferraz

NMR structures of small molecules bound to a model of an RNA CUG repeat expansion.

Jonathan L,Chen, Amirhossein,Taghavi, Alexander J,Frank, Matthew A,Fountain, Shruti,Choudhary, Soma,Roy, Jessica L,Childs-Disney, Matthew D,Disney

Atypical Presentations of Huntington Disease-like 2 in South African Individuals.

Heena,Narotam-Jeena, Mark,Guttman, Ludo,van Hillegondsberg, Riaan,van Coller, Amanda,Krause, Jonathan,Carr

The First Case of Huntington's Disease like 2 in Mali, West Africa.

Abdoulaye,Bocoum, Madani,Ouologuem, Lassana,Cissé, Fahmida,Essop, Souleymane,Dit Papa Coulibaly, Nadine,Botha, Cheick A K,Cissé, Alassane,Dit Baneye Maiga, Amanda,Krause, Guida,Landouré

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.

Martin,Paucar, José,Laffita-Mesa, Valter,Niemelä, Helena,Malmgren, Inger,Nennesmo, Kristina,Lagerstedt-Robinson, Magnus,Nordenskjöld, Per,Svenningsson

Clinical and Molecular Findings of Intermediate Allele Carriers in the HTT Gene from the Mexican Mestizo Population.

Miguel Ángel,Ramírez-García, David José,Dávila-Ortiz de Montellano, Leticia,Martínez-Ruano, Adriana,Ochoa-Morales, Sandra,Romero-Hidalgo, Juan Carlos,Zenteno, Petra,Yescas-Gómez

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.

Thomas,Bourinaris, Alkyoni,Athanasiou, Stephanie,Efthymiou, Sarah,Wiethoff, Vincenzo,Salpietro, Henry,Houlden

The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease.

Aline,Ferreira-Correia, Amanda,Krause, David G,Anderson

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

Jaslovleen,Kaur, Shaista,Parveen, Uzma,Shamim, Pooja,Sharma, Varun,Suroliya, Akhilesh Kumar,Sonkar, Istaq,Ahmad, Jyoti,Garg, Kuljeet Singh,Anand, Sanghamitra,Laskar, Debashish,Chowdhury, Suman,Kushwaha, Vinay,Goyal, Achal K,Srivastava, Gagandeep,Singh, Mohd,Faruq