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
1993 1
1994 1
1995 1
1996 1
2000 1
2018 1
2019 1
2020 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Zambon AA, Pini V, Bosco L, Falzone YM, Munot P, Muntoni F, Previtali SC. Zambon AA, et al. Brain. 2023 Mar 1;146(3):806-822. doi: 10.1093/brain/awac452. Brain. 2023. PMID: 36445400 Free PMC article. Review.
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neuron dysfunction, slowly progressive length-dependent distal muscle weakness and atrophy, without sensory involvement. Their cumulative estima …
Hereditary motor neuropathies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neuron dysfunction …
Autophagy and Polyglutamine Disease.
Ren H, Hao Z, Wang G. Ren H, et al. Adv Exp Med Biol. 2020;1207:149-161. doi: 10.1007/978-981-15-4272-5_9. Adv Exp Med Biol. 2020. PMID: 32671744 Review.
At least 9 kinds of polyglutamine diseases have been discovered, including Huntington disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinobulbar muscular atrophy (SBMA) and six spinocerebellar ataxia (SCA) such as SCA1, 2, 3, 6, 7 and 17 s …
At least 9 kinds of polyglutamine diseases have been discovered, including Huntington disease (HD), dentatorubral pallidoluysian atrophy
The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology.
Stoyas CA, La Spada AR. Stoyas CA, et al. Handb Clin Neurol. 2018;147:143-170. doi: 10.1016/B978-0-444-63233-3.00011-7. Handb Clin Neurol. 2018. PMID: 29325609 Review.
The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington disease, dentatorubral pallidoluysian atrophy, and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17). All CAG-polyglutam …
The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington …
Triplet repeat expansion in neuromuscular disease.
Lieberman AP, Fischbeck KH. Lieberman AP, et al. Muscle Nerve. 2000 Jun;23(6):843-50. doi: 10.1002/(sici)1097-4598(200006)23:6<843::aid-mus2>3.0.co;2-8. Muscle Nerve. 2000. PMID: 10842259 Review.
Here we review what has been learned of three neuromuscular diseases caused by this type of mutation. X-linked spinal and bulbar muscular atrophy is a motor neuronopathy caused by a CAG repeat expansion in the androgen receptor gene. ...M …
Here we review what has been learned of three neuromuscular diseases caused by this type of mutation. X-linked spina
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
Vita G, Vita GL, Musumeci O, Rodolico C, Messina S. Vita G, et al. Neurol Sci. 2019 Apr;40(4):671-681. doi: 10.1007/s10072-019-03764-z. Epub 2019 Feb 25. Neurol Sci. 2019. PMID: 30805745 Review.
Nusinersen, an SMN2 mRNA splicing modifier, was approved as first-ever therapy of spinal muscular atrophy (SMA) by FDA in 2016 and by EMA in 2017. The orally administered small-molecule risdiplam, which increases SMN protein levels similarly but also in perip …
Nusinersen, an SMN2 mRNA splicing modifier, was approved as first-ever therapy of spinal muscular atrophy (SMA) by FDA …
Disorders of the motor neurone.
Morrison KE, Harding AE. Morrison KE, et al. Baillieres Clin Neurol. 1994 Aug;3(2):431-45. Baillieres Clin Neurol. 1994. PMID: 7952856 Review.
The spinal muscular atrophies (SMAs) are defined as a group of inherited disorders sharing the common pathological feature of degeneration of the anterior horn cells of the spinal cord and, in some cases, additionally of the bulbar motor nuclei. ...Second, in …
The spinal muscular atrophies (SMAs) are defined as a group of inherited disorders sharing the common pathological feature of …
Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature.
Reimers CD, Schlotter B, Eicke BM, Witt TN. Reimers CD, et al. J Neurol Sci. 1996 Nov;143(1-2):46-56. doi: 10.1016/s0022-510x(96)00037-8. J Neurol Sci. 1996. PMID: 8981297 Review.
A significantly increased portion of both absolute calf hypertrophies and pseudohypertrophies as compared to the control group were found in juvenile proximal spinal muscular atrophy type 3, central core disease, centronuclear myopathy, benign …
A significantly increased portion of both absolute calf hypertrophies and pseudohypertrophies as compared to the control group were found in …
[Genetics in movement disorders].
Sakoda S. Sakoda S. Nihon Rinsho. 1993 Nov;51(11):2935-9. Nihon Rinsho. 1993. PMID: 8277574 Review. Japanese.
Genetic considerations in movement disorders are described. 1) Familial parkinsonisms are heterogeneous; genes for two of them, 'Lubag' and Waisman syndrome have been mapped to X chromosome, though genes for others do not have been mapped. 2) The responsible gene fo …
Genetic considerations in movement disorders are described. 1) Familial parkinsonisms are heterogeneous; genes for two of them, 'Luba …
[From degeneration to anticipation. Systematic and historical scientific aspects of the genetics of neuropsychiatric diseases].
Spitzer M, Hermle L. Spitzer M, et al. Nervenarzt. 1995 Mar;66(3):187-96. Nervenarzt. 1995. PMID: 7753243 Review. German.
The features of these so-called dynamic mutations are discussed with reference to the known examples (Huntington's chorea, fragile X syndrome, myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, spinocerebellar ataxia type 1, …
The features of these so-called dynamic mutations are discussed with reference to the known examples (Huntington's chorea, fragile X syndrom …