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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2012 1
2018 1
2019 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Your search was processed without automatic term mapping because it retrieved zero results.
Page 1
Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.
Yiu EM, Ryan MM. Yiu EM, et al. J Peripher Nerv Syst. 2012 Sep;17(3):285-300. doi: 10.1111/j.1529-8027.2012.00412.x. J Peripher Nerv Syst. 2012. PMID: 22971091 Review.
We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, giant axonal neuropathy, infantile neuroaxonal dystrophy, hereditary motor and sensory neuropathy with agenesis of the …
We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, gi …
Population history and its impact on medical genetics in Quebec.
Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, Mitchell GA. Laberge AM, et al. Clin Genet. 2005 Oct;68(4):287-301. doi: 10.1111/j.1399-0004.2005.00497.x. Clin Genet. 2005. PMID: 16143014 Review.
Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and peripheral neuropathy (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111). Other …
Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of …
A role for KCC3 in maintaining cell volume of peripheral nerve fibers.
Flores B, Schornak CC, Delpire E. Flores B, et al. Neurochem Int. 2019 Feb;123:114-124. doi: 10.1016/j.neuint.2018.01.009. Epub 2018 Jan 31. Neurochem Int. 2019. PMID: 29366908 Free PMC article. Review.
A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) in a population of individuals in the Charlevoix/Lac-Saint-Jean region of Quebec, Canada. ...Interestingly, the most recent KCC3 …
A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum