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
2011 1
2012 1
2015 1
2021 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Spinocerebellar ataxia, autosomal recessive 22"
Page 1
A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.
Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M. Fields T, et al. Trials. 2021 Jan 22;22(1):84. doi: 10.1186/s13063-020-05009-3. Trials. 2021. PMID: 33482890 Free PMC article.
Here, we describe the development of an innovative master protocol and primary outcome assessment to investigate the modified amino acid N-acetyl-L-leucine (Sponsor Code: IB1001) in three separate, multinational, phase II trials for three ultra-rare, autosomal-recessive …
Here, we describe the development of an innovative master protocol and primary outcome assessment to investigate the modified amino acid N-a …
The Effect of N-Acetyl-DL-Leucine on Neurological Symptoms in a Patient with Ataxia-Telangiectasia: a Case Study.
Saberi-Karimian M, Beyraghi-Tousi M, Mirzadeh M, Gumpricht E, Sahebkar A. Saberi-Karimian M, et al. Cerebellum. 2023 Feb;22(1):96-101. doi: 10.1007/s12311-022-01371-x. Epub 2022 Feb 7. Cerebellum. 2023. PMID: 35128617
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder with no available curative treatment. ...Additionally, The Scale for the Assessment and Rating of Ataxia (SARA) score was used to assess the drug's effects on ataxia symptoms at b …
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder with no available curative treatment. ...Additionally …
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB. Reetz K, et al. Lancet Neurol. 2015 Feb;14(2):174-82. doi: 10.1016/S1474-4422(14)70321-7. Epub 2015 Jan 5. Lancet Neurol. 2015. PMID: 25566998 Clinical Trial.
BACKGROUND: Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the biological and clinical characteristics for a prospective, international, European Friedreich's a …
BACKGROUND: Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectiona …
Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia.
Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB. Lockman JL, et al. Paediatr Anaesth. 2012 Mar;22(3):256-62. doi: 10.1111/j.1460-9592.2011.03739.x. Epub 2011 Nov 21. Paediatr Anaesth. 2012. PMID: 22098343
BACKGROUND: Ataxia-Telangiectasia is a rare autosomal recessive genetic disorder resulting in progressive multisystem degeneration and characteristic findings including complex neurodegeneration, immunodeficiency, increased risk of malignancy, and lung diseas …
BACKGROUND: Ataxia-Telangiectasia is a rare autosomal recessive genetic disorder resulting in progressive multisystem d …