Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

484 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Phenotypic characterization of hypomyelination and congenital cataract.
Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Among authors: schenone a. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097
Congenital hypomyelination due to myelin protein zero Q215X mutation.
Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A. Mandich P, et al. Among authors: schenone a. Ann Neurol. 1999 May;45(5):676-8. doi: 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k. Ann Neurol. 1999. PMID: 10319895
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Among authors: schenone a. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C. Biancheri R, et al. Among authors: schenone a. J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10. J Neurol. 2006. PMID: 16607474 No abstract available.
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Among authors: schenone a. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682
484 results