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

Year Number of Results
1979 2
1982 1
1983 1
1984 2
1985 3
1986 2
1987 3
1988 2
1989 2
1990 3
1991 3
1992 4
1993 2
1994 3
1995 1
1996 3
1997 6
1998 6
1999 1
2000 3
2001 3
2002 2
2003 3
2004 3
2005 5
2006 7
2007 4
2008 2
2009 2
2010 6
2011 8
2012 12
2013 11
2014 6
2015 12
2016 9
2017 9
2018 17
2019 16
2020 17
2021 17
2022 12
2023 16
2024 5

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226 results

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Page 1
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
RESULTS: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. The disease course was milder in patients with POLR3B than in patients with POLR3A mutations. ...Mutations in POLR3A are associated wi …
RESULTS: The majority of patients presented before 6 years with gross motor delay or regression. Ten percent had an onset beyond 10 years. T …
Cerebral palsy--don't delay.
McIntyre S, Morgan C, Walker K, Novak I. McIntyre S, et al. Dev Disabil Res Rev. 2011;17(2):114-29. doi: 10.1002/ddrr.1106. Dev Disabil Res Rev. 2011. PMID: 23362031 Review.
It is important to discriminate as early as possible between: (a) mild or nonspecific motor delay, (b) developmental coordination disorder, (c) syndromes, (d) metabolic and progressive conditions, and (e) CP with its various motor types and distributions. The most promising pr …
It is important to discriminate as early as possible between: (a) mild or nonspecific motor delay, (b) developmental coordination disorder, …
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Mattioli F, Worpenberg L, Li CT, Ibrahim N, Naz S, Sharif S, Firouzabadi SG, Vosoogh S, Saraeva-Lamri R, Raymond L, Trujillo C, Guex N, Antonarakis SE, Ansar M, Darvish H, Liu RJ, Roignant JY, Reymond A. Mattioli F, et al. Genet Med. 2023 Sep;25(9):100900. doi: 10.1016/j.gim.2023.100900. Epub 2023 May 21. Genet Med. 2023. PMID: 37226891 Free article.
RESULTS: We identified 3 unrelated consanguineous families with deleterious homozygous variants in NSUN6. Two of these variants are predicted to be loss-of-function. One maps to the first exon and is predicted to lead to the absence of NSUN6 via nonsense-mediated de …
RESULTS: We identified 3 unrelated consanguineous families with deleterious homozygous variants in NSUN6. Two of these variants are predi …
Child Developmental Delays and Disorders: Motor Delay.
Duchan E. Duchan E. FP Essent. 2021 Nov;510:11-16. FP Essent. 2021. PMID: 34709024
Gross motor development in infants and children, including loss of cerebral neuromotor maturational markers (ie, primitive reflexes) and achievement of motor developmental milestones, follows a predictable sequence as the central nervous system matures. Because of this …
Gross motor development in infants and children, including loss of cerebral neuromotor maturational markers (ie, primitive reflexes) and ach …
Diagnosing cerebral palsy in full-term infants.
Morgan C, Fahey M, Roy B, Novak I. Morgan C, et al. J Paediatr Child Health. 2018 Oct;54(10):1159-1164. doi: 10.1111/jpc.14177. J Paediatr Child Health. 2018. PMID: 30294991 Review.
More than 50% of infants with cerebral palsy (CP) are born at or near term, with the vast majority having pre- or perinatally acquired CP. While some have a clinical history predictive of CP, such as neonatal encephalopathy or neonatal stroke, others have no readily identi …
More than 50% of infants with cerebral palsy (CP) are born at or near term, with the vast majority having pre- or perinatally acquired CP. W …
Phototherapy and risk of developmental delay: the Japan Environment and Children's Study.
Hotta M, Ueda K, Ikehara S, Tanigawa K, Nakayama H, Wada K, Kimura T, Ozono K, Sobue T, Iso H; Japan Environment, Children’s Study Group. Hotta M, et al. Eur J Pediatr. 2023 May;182(5):2139-2149. doi: 10.1007/s00431-022-04785-1. Epub 2023 Feb 27. Eur J Pediatr. 2023. PMID: 36847872
After adjustment for potential risk factors, a dose-response relationship was identified between the duration of phototherapy and Ages and Stages Questionnaire-3, and the differences were significant in four domains; odds ratio for communication delay was associated with short, l …
After adjustment for potential risk factors, a dose-response relationship was identified between the duration of phototherapy and Ages and S …
Neuroimaging in cerebral palsy.
Accardo J, Kammann H, Hoon AH Jr. Accardo J, et al. J Pediatr. 2004 Aug;145(2 Suppl):S19-27. doi: 10.1016/j.jpeds.2004.05.018. J Pediatr. 2004. PMID: 15292883 Review.
Parents and clinicians concerned about high-risk infants and children with motor delay or cerebral palsy seek information on cause, treatment, prognosis, and recurrence risk. Used in combination with history and examination, neuroimaging studies can improve diagnosis and m …
Parents and clinicians concerned about high-risk infants and children with motor delay or cerebral palsy seek information on cause, treatmen …
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8.
Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Feng J, et al. Orphanet J Rare Dis. 2021 Sep 20;16(1):392. doi: 10.1186/s13023-021-02018-6. Orphanet J Rare Dis. 2021. PMID: 34544473 Free PMC article. Review.
Based on a newborn screening program, we evaluated the incidence, phenotype and genotype of IBDD as well as the prognosis. Moreover, we reviewed the variant spectrum in ACAD8 associated with IBDD. ...Our IBDD cohort with detaied clinical characteristics, genotypes and long …
Based on a newborn screening program, we evaluated the incidence, phenotype and genotype of IBDD as well as the prognosis. Moreover, …
226 results