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

Year Number of Results
1975 2
1976 1
1978 1
1980 1
1981 1
1982 2
1984 1
1985 1
1986 2
1987 5
1988 5
1989 8
1990 7
1991 10
1992 5
1993 9
1994 13
1995 4
1996 14
1997 8
1998 11
1999 16
2000 18
2001 22
2002 23
2003 10
2004 25
2005 19
2006 32
2007 33
2008 25
2009 17
2010 20
2011 39
2012 43
2013 51
2014 53
2015 41
2016 37
2017 40
2018 51
2019 55
2020 60
2021 58
2022 62
2023 43
2024 16

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Search Results

910 results

Results by year

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Page 1
Charcot-Marie-Tooth: From Molecules to Therapy.
Morena J, Gupta A, Hoyle JC. Morena J, et al. Int J Mol Sci. 2019 Jul 12;20(14):3419. doi: 10.3390/ijms20143419. Int J Mol Sci. 2019. PMID: 31336816 Free PMC article. Review.
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. ...
Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal …
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
CIP and HSAN are caused by pathogenic genetic variants in >20 genes that lead to developmental defects, neurodegeneration or altered neuronal excitability of peripheral damage-sensing neurons. These genetic variants lead to hyperactivity of sodium channels, disturbed ha …
CIP and HSAN are caused by pathogenic genetic variants in >20 genes that lead to developmental defects, neurodegeneration or altered neur …
Neurological update: hereditary neuropathies.
Kramarz C, Rossor AM. Kramarz C, et al. J Neurol. 2022 Sep;269(9):5187-5191. doi: 10.1007/s00415-022-11164-1. Epub 2022 May 21. J Neurol. 2022. PMID: 35596796 Free PMC article. Review.
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in heredit …
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commone …
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 …
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
To date, 45 causative genes/loci have been identified in non syndromic RP (for the autosomal dominant, autosomal recessive, X-linked, and digenic forms). Clinical diagnosis is based on the presence of night blindness and peripheral visual field defects …
To date, 45 causative genes/loci have been identified in non syndromic RP (for the autosomal dominant, autosomal recessive …
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 …
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. ...From the beginning of published cohorts, spora …
The association to a peripheral sensory axonal neuropathy was described later on, with neuropathological studies demonstrating …
[Neuropsychological examination in children with intellectual disabilities].
Echavarría-Ramírez LM, Tirapu-Ustárroz J. Echavarría-Ramírez LM, et al. Rev Neurol. 2021 Jul 16;73(2):66-76. doi: 10.33588/rn.7302.2021025. Rev Neurol. 2021. PMID: 34254662 Free article. Review. Spanish.
Intellectual disability is a neurodevelopmental condition characterised by cognitive deficits and functional impairments in adaptive behaviour that occur during development. ...Such relevance lies, on the one hand, in determining whether the child's disabilit …
Intellectual disability is a neurodevelopmental condition characterised by cognitive deficits and functional impairments in ad …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. ...New genetic methods and stem cell transplantati …
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central …
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.
Their cumulative estimated prevalence is 2.14/100 000 and, to date, around 30 causative genes have been identified with autosomal dominant, recessive,and X-linked inheritance. Despite the advances of next generation sequencing, more than 60% of patients with HMN rem …
Their cumulative estimated prevalence is 2.14/100 000 and, to date, around 30 causative genes have been identified with autosomal dom …
910 results