Atypical presentation of late-onset Tay-sachs disease

Author:

Deik Andres12,Saunders-Pullman Rachel13

Affiliation:

1. Department of Neurology; Beth Israel Medical Center; New York New York USA

2. University of Pennsylvania; Parkinson Disease and Movement Disorders Center, 330 S. 9th Street, 2nd Floor, Suite 219 Philadelphia Pennsylvania 19107 USA

3. Department of Neurology; Albert Einstein College of Medicine; Bronx New York USA

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Reference18 articles.

1. A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation;Cao;Am J Hum Genet,1993

2. Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment;Shapiro;Neurology,2006

3. Progressive muscular atrophy and other lower motor neuron syndromes of adults;Rowland;Muscle Nerve,2010

4. Spinal muscular atrophy;D'Amico;Orphanet J Rare Dis,2011

5. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives;Bosch;Orphanet J Rare Dis,2012

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