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

Year Number of Results
1975 1
1979 1
1983 1
1984 1
1986 1
1987 1
1988 1
1989 1
1990 2
1992 1
1994 3
1995 2
1996 3
1997 1
1998 4
2000 3
2001 1
2002 2
2003 5
2004 2
2005 1
2006 2
2007 4
2008 4
2009 2
2010 5
2011 5
2012 3
2013 1
2014 3
2015 4
2016 2
2017 4
2018 3
2019 8
2020 5
2021 3
2022 5
2023 5
2024 2

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99 results

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Page 1
Spinal muscular atrophy.
D'Amico A, Mercuri E, Tiziano FD, Bertini E. D'Amico A, et al. Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71. Orphanet J Rare Dis. 2011. PMID: 22047105 Free PMC article. Review.
Estimated incidence is 1 in 6,000 to 1 in 10,000 live births and carrier frequency of 1/40-1/60. This disease is characterized by generalized muscle weakness and atrophy predominating in proximal limb muscles, and phenotype is classified into four grades of s …
Estimated incidence is 1 in 6,000 to 1 in 10,000 live births and carrier frequency of 1/40-1/60. This disease is characterized by general …
Fasciculating toxicity.
Ranjan A, Jamshed N, Aggarwal P, Upadhyay V. Ranjan A, et al. Am J Emerg Med. 2019 Apr;37(4):798.e1-798.e2. doi: 10.1016/j.ajem.2019.01.033. Epub 2019 Jan 21. Am J Emerg Med. 2019. PMID: 30686539
She had perioral, tongue and lower limb fasciculations along with generalized muscle weakness with no or minimal muscarinic effects. OP poisoning with isolated nicotinic receptor mediated effect is often reported in children but in adult it is extremely rare. …
She had perioral, tongue and lower limb fasciculations along with generalized muscle weakness with no or minimal muscar …
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A. Holzwarth J, et al. Neuropediatrics. 2022 Feb;53(1):39-45. doi: 10.1055/s-0041-1735250. Epub 2021 Dec 1. Neuropediatrics. 2022. PMID: 34852371
Three out of eight patients manifesting within the first year of life showed generalized muscle weakness, hypertrophic cardiomyopathy, and had to be ventilated during the course of disease, thereby demonstrating clinical overlap with infantile onset Pompe dis …
Three out of eight patients manifesting within the first year of life showed generalized muscle weakness, hypertrophic …
Juvenile myasthenia gravis: recommendations for diagnostic approaches and treatment.
Della Marina A, Trippe H, Lutz S, Schara U. Della Marina A, et al. Neuropediatrics. 2014 Apr;45(2):75-83. doi: 10.1055/s-0033-1364181. Epub 2014 Jan 27. Neuropediatrics. 2014. PMID: 24470240 Review.
Isolated ocular symptoms are frequent at onset, spontaneous remission or intermittent symptoms over the longer period of time can occur. Very young children may present with generalized muscle weakness already during the second year of life and in this patien …
Isolated ocular symptoms are frequent at onset, spontaneous remission or intermittent symptoms over the longer period of time can occur. Ver …
Prenatal diagnosis of Fukuyama congenital muscular dystrophy.
Saito K. Saito K. Prenat Diagn. 2006 May;26(5):415-7. doi: 10.1002/pd.1426. Prenat Diagn. 2006. PMID: 16570239 Review.
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar c …
Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakn …
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
Schwartz CE, Stevenson RE. Schwartz CE, et al. Best Pract Res Clin Endocrinol Metab. 2007 Jun;21(2):307-21. doi: 10.1016/j.beem.2007.03.009. Best Pract Res Clin Endocrinol Metab. 2007. PMID: 17574010 Free PMC article. Review.
This syndrome is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays. Affected males also present with muscle hypoplasia, generalized muscle weakness, and limited speech. Importantly, these patients have elevated …
This syndrome is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays. Affected males also pre …
Multimodal assessment of intensive care unit-acquired weakness in severe stroke patients.
Inan B, Bekircan-Kurt CE, Ergul-Ulger Z, Yilmaz M, Dikmen ZG, Arsava EM, Topcuoglu MA, Caglar O, Basol M, Karaagaoglu E, Erdem-Ozdamar S, Tan E, Temucin CM. Inan B, et al. Acta Neurol Belg. 2022 Oct;122(5):1313-1321. doi: 10.1007/s13760-022-02009-9. Epub 2022 Jul 6. Acta Neurol Belg. 2022. PMID: 35790678
BACKGROUND: Intensive care unit-acquired weakness (ICUAW) defines generalized muscle weakness seen in critically ill patients in the absence of other causative factors. ...
BACKGROUND: Intensive care unit-acquired weakness (ICUAW) defines generalized muscle weakness seen in critically ill pa …
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.
Our results showed that this is a very severe and quickly progressive disease characterized by generalized muscle weakness affecting predominantly proximal and distal muscles of the limbs. ...
Our results showed that this is a very severe and quickly progressive disease characterized by generalized muscle weakness …
Gait and Sit-To-Stand Motor Compensation Strategies in Children and Adolescents With Duchenne Muscular Dystrophy.
Dazzi MAR, Sá CDSC. Dazzi MAR, et al. Percept Mot Skills. 2023 Feb;130(1):221-238. doi: 10.1177/00315125221128129. Epub 2022 Sep 19. Percept Mot Skills. 2023. PMID: 36121164
Duchenne Muscular Dystrophy (DMD), the most common form of muscular dystrophies, is characterized by progressive and generalized muscle weakness. The weakness of the trunk and other muscle groups leads these patients to perform motor compensation strategies t …
Duchenne Muscular Dystrophy (DMD), the most common form of muscular dystrophies, is characterized by progressive and generalized m …
99 results