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

Year Number of Results
1972 1
1975 2
1977 1
1978 4
1979 2
1980 3
1981 2
1982 5
1983 5
1984 1
1985 6
1986 3
1987 9
1988 5
1989 8
1990 6
1991 8
1992 6
1993 10
1994 19
1995 15
1996 14
1997 13
1998 23
1999 14
2000 27
2001 22
2002 15
2003 24
2004 25
2005 24
2006 35
2007 37
2008 48
2009 48
2010 45
2011 64
2012 67
2013 71
2014 75
2015 75
2016 84
2017 87
2018 106
2019 110
2020 120
2021 113
2022 113
2023 102
2024 56

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1,557 results

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Quoted phrase not found in phrase index: "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"
Page 1
Diagnosis, treatment, and prevention of cerebral palsy.
O'Shea TM. O'Shea TM. Clin Obstet Gynecol. 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. Clin Obstet Gynecol. 2008. PMID: 18981805 Free PMC article. Review.
Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malformations, and periventricular leukomalacia. In addition to the motor impairment, individuals with cerebral palsy may have sensory impairments …
Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malformations, and …
Neuroanatomy of autism.
Amaral DG, Schumann CM, Nordahl CW. Amaral DG, et al. Trends Neurosci. 2008 Mar;31(3):137-45. doi: 10.1016/j.tins.2007.12.005. Epub 2008 Feb 6. Trends Neurosci. 2008. PMID: 18258309 Review.
Individuals with autism have deficits in social interaction and verbal and nonverbal communication and have restricted or stereotyped patterns of behavior. They might also have co-morbid disorders including intellectual impairment, seizures and anxiety. Postmortem a …
Individuals with autism have deficits in social interaction and verbal and nonverbal communication and have restricted or stereotyped patter …
Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M, Hermann R, Froment Tilikete C. Dupré M, et al. Cerebellum. 2021 Oct;20(5):687-700. doi: 10.1007/s12311-020-01192-w. Epub 2020 Oct 4. Cerebellum. 2021. PMID: 33011895 Free PMC article. Review.
The association to a peripheral sensory axonal neuropathy was described later on, with neuropathological studies demonstrating that both sensory neuropathy and vestibular areflexia were diffuse ganglionopathy. ...Besides the classical triad, frequent chronic …
The association to a peripheral sensory axonal neuropathy was described later on, with neuropathological studies demonstrating …
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
A childhood onset of autosomal dominant CMT2A is the most predictive marker of significant disease severity and is independent of the disease duration. When compared to adult onset autosomal dominant CMT2A, it is associated with significantly higher rates of …
A childhood onset of autosomal dominant CMT2A is the most predictive marker of significant disease severity and is independent …
Genomics of Autism.
Fakhro KA. Fakhro KA. Adv Neurobiol. 2020;24:83-96. doi: 10.1007/978-3-030-30402-7_3. Adv Neurobiol. 2020. PMID: 32006357 Review.
Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, repetitive behavior and a widely variable spectrum of comorbidities. These comorbidities may include developmental delay, gastrointe …
Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social intera …
Attention.
Callahan PM, Terry AV Jr. Callahan PM, et al. Handb Exp Pharmacol. 2015;228:161-89. doi: 10.1007/978-3-319-16522-6_5. Handb Exp Pharmacol. 2015. PMID: 25977082 Review.
The ability to focus one's attention on important environmental stimuli while ignoring irrelevant stimuli is fundamental to human cognition and intellectual function. Attention is inextricably linked to perception, learning and memory, and executive function; however, it i …
The ability to focus one's attention on important environmental stimuli while ignoring irrelevant stimuli is fundamental to human cognition …
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. ...All pathogenic motifs appeared to have arisen from a common haplotype …
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative di …
Symptomatic myoclonus.
Borg M. Borg M. Neurophysiol Clin. 2006 Sep-Dec;36(5-6):309-18. doi: 10.1016/j.neucli.2006.12.006. Epub 2007 Jan 17. Neurophysiol Clin. 2006. PMID: 17336775 Review.
Palatal tremor (myoclonus) with ataxia may represent either a sporadic pattern, which often reflects the evolution of degenerative or lesional disorders, or a familial pattern in some degenerative affections or metabolic diseases. Of more recent knowledge is the associatio …
Palatal tremor (myoclonus) with ataxia may represent either a sporadic pattern, which often reflects the evolution of degenerative or lesion …
Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP. Pedroso JL, et al. Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30. Arq Neuropsiquiatr. 2023. PMID: 38035585 Free PMC article. Review.
OBJECTIVE: To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases. METHODS: We conducted a narrative review of the literature, including case reports, case series, revi …
OBJECTIVE: To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the tas …
The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.
Meyyazhagan A, Kuchi Bhotla H, Pappuswamy M, Orlacchio A. Meyyazhagan A, et al. Int J Mol Sci. 2022 Jul 11;23(14):7665. doi: 10.3390/ijms23147665. Int J Mol Sci. 2022. PMID: 35887006 Free PMC article. Review.
HSP is associated with changes in about 80 genes and their products involved in various biochemical pathways, such as lipid droplet formation, endoplasmic reticulum shaping, axon transport, endosome trafficking, and mitochondrial function. With the inheritance patterns of auto …
HSP is associated with changes in about 80 genes and their products involved in various biochemical pathways, such as lipid droplet formatio …
1,557 results