Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

Author:

Di Michele Michela,Goubau Christophe,Waelkens Etienne,Thys Chantal,De Vos Rita,Overbergh Lut,Schyns Tsveta,Buyse Gunnar,Casaer Paul,Van Geet Chris,Freson Kathleen

Publisher

Elsevier BV

Subject

Biochemistry,Biophysics

Reference47 articles.

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3. Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients;Fons;Eur J Paediatr Neurol,2011

4. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome;Sweney;Pediatrics,2009

5. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults;Panagiotakaki;Brain,2010

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