A. Gal

发表

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.

E. Moser, F. Ebner, D. Prayer, 2003, Neuropediatrics.

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

R. Rozen, V. Meiner, S. Korman, 2014, JAMA Neurology.

Frequent misdiagnosis of adult polyglucosan body disease

Nir Giladi, J. Chapman, D. Kidron, 2015, Journal of Neurology.

Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes

J. Kriegsmann, B. Winchester, A. Gal, 2001, Journal of Inherited Metabolic Disease.

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

H. Urbach, K. Zerres, S. Rudnik-Schöneborn, 2005, Neuroscience.

Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family

J. Gomori, Z. Meiner, D. Ekstein, 2003, Journal of Neurology.

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27

U. Stephani, J. Bohl, C. Hübner, 2006, Neurology.

Incontinetia pigmenti-related myopathy or unsolved “double trouble”?

A. Doerfler, A. Jünemann, W. Kress, 2010, Neuromuscular Disorders.

Mutations in PDE6A, the Gene Encoding the α-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase, are Rare in Autosomal Recessive Retinitis Pigmentosa

A. Janecke, S. Pittler, A. Gal, 1997 .

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

R. Rozen, V. Meiner, S. Korman, 2014, JAMA neurology.