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Page 1
The NuRD complex and macrocephaly associated neurodevelopmental disorders.
Pierson TM, Otero MG, Grand K, Choi A, Graham JM Jr, Young JI, Mackay JP. Pierson TM, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):548-556. doi: 10.1002/ajmg.c.31752. Epub 2019 Nov 18. Am J Med Genet C Semin Med Genet. 2019. PMID: 31737996 Review.
In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects. GATAD2B-associated neurodevelopmental d
In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas C …
Towards Central Nervous System Involvement in Adults with Hereditary Myopathies.
Reimann J, Kornblum C. Reimann J, et al. J Neuromuscul Dis. 2020;7(4):367-393. doi: 10.3233/JND-200507. J Neuromuscul Dis. 2020. PMID: 32773394 Free PMC article. Review.
There is increasing evidence of central nervous system involvement in numerous neuromuscular disorders primarily considered diseases of skeletal muscle. ...Intriguingly, there is a remarkable overlap of brain pathology in muscular diseases with pathomechanism …
There is increasing evidence of central nervous system involvement in numerous neuromuscular disorders primarily considered di …
Severe scoliosis in neurodevelopmental disabilities: clinical signs and therapeutic proposals.
Ferrari A, Ferrara C, Balugani M, Sassi S. Ferrari A, et al. Eur J Phys Rehabil Med. 2010 Dec;46(4):563-80. Eur J Phys Rehabil Med. 2010. PMID: 21224789 Free article. Review.
Scoliosis is an important cause of disability in childhood, due to its incidence and limitation on ability. In neurodevelopmental disabilities, scoliosis worsens the already limited functional capacities of the child and can thwart abilities partially recovered through reh …
Scoliosis is an important cause of disability in childhood, due to its incidence and limitation on ability. In neurodevelopmental dis …
Marinesco-Sjögren syndrome in a male with mild dysmorphism.
Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Slavotinek A, et al. Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504. Am J Med Genet A. 2005. PMID: 15633176 Review.
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skel
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar …
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.
Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, Dravet C, Bureau M, Howell N, Turnbull DM. Bindoff LA, et al. J Neurol Sci. 1991 Mar;102(1):17-24. doi: 10.1016/0022-510x(91)90088-o. J Neurol Sci. 1991. PMID: 1649912 Review.
Multiple abnormalities of the mitochondrial respiratory chain in skeletal muscle are shown by direct measurement of the flux through the individual complexes, low-temperature redox spectroscopy and decreased immunodetectable subunits of complexes I and IV by immunob …
Multiple abnormalities of the mitochondrial respiratory chain in skeletal muscle are shown by direct measurement of the flux t …