Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation-Reference-Cited by-同舟云学术

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Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation

Published:2007-05 Issue:3 Volume:11 Page:175-177
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Biancheri Roberta,Rossi Andrea,Alpigiani Giannina,Filocamo Mirella,Gandolfo Carlo,Lorini Renata,Minetti Carlo

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference4 articles.

1. Infantile neuroaxonal dystrophy. Clinical spectrum and diagnostic criteria;Nardocci;Neurology,1999

2. Cerebellar involvement in metabolic disorders: a pattern-recognition approach;Steinlin;Neuroradiology,1998

3. PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron;Morgan;Nat Genet,2006

4. The “eye-of-the-tiger” sign is not pathognomonic of the PANK2 mutation;Kumar;Arch Neurol,2006

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1. Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants;Journal of Clinical Neuroscience;2020-01

2. A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy;Journal of the Neurological Sciences;2017-10

3. Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis;Brain and Development;2017-02

4. Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy;Seizure;2016-10

5. Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review;Experimental and Therapeutic Medicine;2016-09-30

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