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

Year Number of Results
1964 2
1965 1
1966 1
1967 2
1972 2
1973 1
1974 1
1976 1
1979 2
1980 1
1981 1
1982 2
1983 2
1985 2
1986 1
1987 1
1988 5
1989 2
1990 3
1991 5
1992 2
1993 6
1994 2
1995 4
1996 3
1997 5
1998 10
1999 1
2000 4
2001 8
2002 6
2003 2
2004 5
2005 12
2006 1
2007 5
2008 9
2009 10
2010 8
2011 10
2012 11
2013 12
2014 14
2015 10
2016 9
2017 18
2018 16
2019 28
2020 15
2021 20
2022 6
2023 20
2024 10

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300 results

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Page 1
Arthrogryposis Multiplex Congenita.
Langston S, Chu A. Langston S, et al. Pediatr Ann. 2020 Jul 1;49(7):e299-e304. doi: 10.3928/19382359-20200624-01. Pediatr Ann. 2020. PMID: 32674167 Review.
Arthrogryposis multiplex congenita (AMC) is a complex, etiologically diverse, clinical descriptor identified in a variety of diagnoses characterized by multiple congenital joint contractures. ...Physical therapy and surgical intervention of the contractures are the mainsta …
Arthrogryposis multiplex congenita (AMC) is a complex, etiologically diverse, clinical descriptor identified in a variety of diagnose …
Genetic Diseases of PIEZO1 and PIEZO2 Dysfunction.
Alper SL. Alper SL. Curr Top Membr. 2017;79:97-134. doi: 10.1016/bs.ctm.2017.01.001. Epub 2017 Feb 28. Curr Top Membr. 2017. PMID: 28728825 Review.
Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. Gain-of-function mutations in the human PIEZO2 gene cause three clinical types of autosomal dom …
Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory dis …
Hereditary neuropathy with liability to pressure palsies.
Attarian S, Fatehi F, Rajabally YA, Pareyson D. Attarian S, et al. J Neurol. 2020 Aug;267(8):2198-2206. doi: 10.1007/s00415-019-09319-8. Epub 2019 Apr 15. J Neurol. 2020. PMID: 30989370 Review.
Panorama of the distal myopathies.
Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Savarese M, et al. Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458580 Free PMC article. Review.
However, despite being characterized by a wide clinical and genetic heterogeneity, the distal myopathies are a category of muscular dystrophies: genetic diseases with progressive loss of muscle fibers. Myopathic congenital arthrogryposis is also a form of distal myopathy u …
However, despite being characterized by a wide clinical and genetic heterogeneity, the distal myopathies are a category of muscular dystroph …
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.
Of note, we are increasingly aware of the broad range of phenotypes caused by pathogenic variants in the same gene and of the considerable clinical and genetic overlap between HMN and other conditions, such as Charcot-Marie-Tooth type 2 (axonal), spinal muscular atrophy with lowe …
Of note, we are increasingly aware of the broad range of phenotypes caused by pathogenic variants in the same gene and of the considerable c …
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL. Poling MI, et al. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. Orphanet J Rare Dis. 2019. PMID: 30630514 Free PMC article. Review.
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O. Suzumura H, et al. Adv Exp Med Biol. 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. Adv Exp Med Biol. 2010. PMID: 20687508 Review.
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dysmorphis …
Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenit …
Amyoplasia and distal arthrogryposis.
Griffet J, Dieterich K, Bourg V, Bourgeois E. Griffet J, et al. Orthop Traumatol Surg Res. 2021 Feb;107(1S):102781. doi: 10.1016/j.otsr.2020.102781. Epub 2020 Dec 13. Orthop Traumatol Surg Res. 2021. PMID: 33321243 Free article. Review.
Arthrogryposis multiplex congenita (AMC) consists of congenital joint contractures that affect at least two joints. ...In the second type, there are two specific forms: Amyoplasia corresponds to a significant congenital absence of muscles (epigenetic disease or vascular or …
Arthrogryposis multiplex congenita (AMC) consists of congenital joint contractures that affect at least two joints. ...In the second …
Amyoplasia revisited.
Hall JG, Aldinger KA, Tanaka KI. Hall JG, et al. Am J Med Genet A. 2014 Mar;164A(3):700-30. doi: 10.1002/ajmg.a.36395. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459070 Review.
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnosis at this time. ...
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnos …
The Hand in Distal Arthrogryposis.
Alzahrani MA, Farr S. Alzahrani MA, et al. J Hand Surg Am. 2022 May;47(5):460-469. doi: 10.1016/j.jhsa.2021.10.027. Epub 2022 Feb 10. J Hand Surg Am. 2022. PMID: 35151520 Review.
Distal arthrogryposis is the second most common type of arthrogryposis after amyoplasia and is defined as arthrogryposis that affects hands and feet; it is mostly inherited in an autosomal-dominant fashion. This review discusses up-to-date background informat …
Distal arthrogryposis is the second most common type of arthrogryposis after amyoplasia and is defined as arthrogryposis …
300 results