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

Year Number of Results
1977 3
1978 4
1979 1
1980 1
1981 2
1982 2
1983 4
1984 3
1985 3
1986 2
1987 7
1988 15
1989 13
1990 12
1991 9
1992 14
1993 13
1994 13
1995 14
1996 8
1997 17
1998 7
1999 12
2000 15
2001 22
2002 12
2003 23
2004 16
2005 21
2006 17
2007 15
2008 22
2009 11
2010 18
2011 12
2012 15
2013 43
2014 27
2015 19
2016 26
2017 34
2018 39
2019 37
2020 41
2021 32
2022 37
2023 31
2024 18

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Search Results

711 results

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Page 1
Neonatal hypotonia and neuromuscular conditions.
Mercuri E, Pera MC, Brogna C. Mercuri E, et al. Handb Clin Neurol. 2019;162:435-448. doi: 10.1016/B978-0-444-64029-1.00021-7. Handb Clin Neurol. 2019. PMID: 31324324 Review.
The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign of different underlying causes, including peripheral and central nervous system involvement and genetic and metabolic diseases. This chapte …
The differential diagnosis of neonatal hypotonia is a complex task, as in newborns hypotonia can be the presenting sign …
Vitamin B12 deficiency: case report and review of literature.
Hasbaoui BE, Mebrouk N, Saghir S, Yajouri AE, Abilkassem R, Agadr A. Hasbaoui BE, et al. Pan Afr Med J. 2021 Mar 4;38:237. doi: 10.11604/pamj.2021.38.237.20967. eCollection 2021. Pan Afr Med J. 2021. PMID: 34046142 Free PMC article. Review.
Because of the importance of vitamin B12 in the development of the foetal and neonatal brain, vegetarian and vegan mothers should be aware of the severe and not fully-reversible damages caused by insufficient nutritional intake of vitamin B12 during pregnancy and lactation …
Because of the importance of vitamin B12 in the development of the foetal and neonatal brain, vegetarian and vegan mothers should be …
Inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM. Ferreira CR, et al. Handb Clin Neurol. 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. Handb Clin Neurol. 2019. PMID: 31324325 Review.
In this review, we summarize the clinical, laboratory, electrophysiologic, and neuroimaging findings of the different inborn errors of metabolism that can present with florid neurologic signs and symptoms in the neonatal period....
In this review, we summarize the clinical, laboratory, electrophysiologic, and neuroimaging findings of the different inborn errors of metab …
The Term Newborn: Hypoglycemia.
Hubbard EM, Hay WW Jr. Hubbard EM, et al. Clin Perinatol. 2021 Aug;48(3):665-679. doi: 10.1016/j.clp.2021.05.013. Clin Perinatol. 2021. PMID: 34353586 Review.
Neonatal hypoglycemia is a common metabolic condition that continues to plague clinicians because there is no clear relationship between low glucose concentrations or their duration that determines adverse neurologic outcomes. However, severely low, prolonged, recurrent lo …
Neonatal hypoglycemia is a common metabolic condition that continues to plague clinicians because there is no clear relationship betw …
Metabolic Myopathies.
Tarnopolsky MA. Tarnopolsky MA. Continuum (Minneap Minn). 2022 Dec 1;28(6):1752-1777. doi: 10.1212/CON.0000000000001182. Continuum (Minneap Minn). 2022. PMID: 36537979 Review.
PURPOSE OF REVIEW: Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. RECENT FINDINGS: Impairments …
PURPOSE OF REVIEW: Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormon …
Acute flaccid myelitis: cause, diagnosis, and management.
Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA; AFM working group. Murphy OC, et al. Lancet. 2021 Jan 23;397(10271):334-346. doi: 10.1016/S0140-6736(20)32723-9. Epub 2020 Dec 23. Lancet. 2021. PMID: 33357469 Free PMC article. Review.
Outbreaks of AFM have occurred across multiple global regions since 2012, and the disease appears to be caused by non-polio enterovirus infection, posing a major public health challenge. The clinical presentation of flaccid and often profound muscle weakness (which can inv …
Outbreaks of AFM have occurred across multiple global regions since 2012, and the disease appears to be caused by non-polio enterovirus infe …
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C. Sewry CA, et al. J Muscle Res Cell Motil. 2019 Jun;40(2):111-126. doi: 10.1007/s10974-019-09519-9. Epub 2019 Jun 21. J Muscle Res Cell Motil. 2019. PMID: 31228046 Free PMC article. Review.
The genes encoding skeletal alpha-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause. Most patients have congenital onset characterized by muscle weakness and hypotonia, but the spectrum of clinical phenotypes is broad, ranging from severe neonatal …
The genes encoding skeletal alpha-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause. Most patients have congenital onset chara …
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R. Mary P, et al. Orthop Traumatol Surg Res. 2018 Feb;104(1S):S89-S95. doi: 10.1016/j.otsr.2017.04.019. Epub 2017 Nov 28. Orthop Traumatol Surg Res. 2018. PMID: 29196274 Free article. Review.
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. ...Timing is particularly crucia …
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle …
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Morton SU, et al. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. JAMA Neurol. 2022. PMID: 35254387 Free PMC article. Review.
A total of 74% (17 of 23) of patients had a change in clinical care in response to genetic diagnosis, including 2 patients who received targeted therapy. This narrative review discusses the common causes of neonatal hypotonia, the relative benefits and limitations o …
A total of 74% (17 of 23) of patients had a change in clinical care in response to genetic diagnosis, including 2 patients who received targ …
Interdisciplinary care of children with trisomy 13 and 18.
Weaver MS, Anderson V, Beck J, Delaney JW, Ellis C, Fletcher S, Hammel J, Haney S, Macfadyen A, Norton B, Rickard M, Robinson JA, Sewell R, Starr L, Birge ND. Weaver MS, et al. Am J Med Genet A. 2021 Mar;185(3):966-977. doi: 10.1002/ajmg.a.62051. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381915 Review.
711 results