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1979 1
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Page 1
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
Palaima P, Berciano J, Peeters K, Jordanova A. Palaima P, et al. Orphanet J Rare Dis. 2021 Feb 10;16(1):74. doi: 10.1186/s13023-020-01654-8. Orphanet J Rare Dis. 2021. PMID: 33568173 Free PMC article. Review.
Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by relatively mild, slowly progressive axonal neuropathy, mainly involving lower limbs, with age of onset between the second and fifth decades of life. Asymptomatic individuals we …
Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized by relatively mild, slowly progressive axonal …
The effects of foot orthoses and sensory facilitation on lower limb electromyography: A scoping review.
Robb KA, Howe EE, Perry SD. Robb KA, et al. Foot (Edinb). 2022 Sep;52:101904. doi: 10.1016/j.foot.2022.101904. Epub 2022 Jan 6. Foot (Edinb). 2022. PMID: 36049264 Review.
Foot orthoses (FO) are used as a treatment for biomechanical abnormalities, overuse injuries, and neuropathologies, but study of their mechanism remains inconclusive. ...The discussion divides trends in FO treatment modalities by desired increase or decrease in each compar …
Foot orthoses (FO) are used as a treatment for biomechanical abnormalities, overuse injuries, and neuropathologies, but study of thei …
Tendon Transfers for the Hypoplastic Thumb.
Wall LB, Goldfarb CA. Wall LB, et al. Hand Clin. 2016 Aug;32(3):417-21. doi: 10.1016/j.hcl.2016.03.012. Epub 2016 May 21. Hand Clin. 2016. PMID: 27387085 Free PMC article. Review.
Both transfers use ulnar-sided structures to augment the thenar musculature. The Huber opposition transfer increases thenar bulk, but does not provide additional tissue for metacarpophalangeal stability....
Both transfers use ulnar-sided structures to augment the thenar musculature. The Huber opposition transfer increases thenar bulk, but …
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Massucco S, Gemelli C, Bellone E, Geroldi A, Patrone S, Mandich P, Scarsi E, Faedo E, Marinelli L, Mongini T, Traverso M, Baratto S, Schenone A, Fiorillo C, Grandis M. Massucco S, et al. Acta Myol. 2023 Dec 20;42(4):113-117. doi: 10.36185/2532-1900-323. eCollection 2023. Acta Myol. 2023. PMID: 38406380 Free PMC article. Review.
We herein review the main phenotypes associated with SORD mutations and report the case of a 16-year-old man who was referred to our outpatient clinic for a slowly worsening gait disorder with wasting and weakness of distal lower limbs musculature. Since creatine ph …
We herein review the main phenotypes associated with SORD mutations and report the case of a 16-year-old man who was referred to our outpati …
Expansion of the phenotypic profile of the young child with XXY.
Samango-Sprouse C. Samango-Sprouse C. Pediatr Endocrinol Rev. 2010 Dec;8 Suppl 1:160-8. Pediatr Endocrinol Rev. 2010. PMID: 21217608 Review.
XXY is a common chromosomal abnormality which remains under diagnosed and not well understood, although it was first described more than 50 years ago. ...The early motor and speech disturbances are not random developmental delays, but rather the early presentation of the c …
XXY is a common chromosomal abnormality which remains under diagnosed and not well understood, although it was first described more t …
Sonoelastography of the trunk and lower extremity muscles in a case of Duchenne muscular dystrophy.
Cornelson SM, Ruff AN, Perillat M, Kettner NW. Cornelson SM, et al. J Ultrasound. 2021 Sep;24(3):343-347. doi: 10.1007/s40477-019-00394-1. Epub 2019 Jun 29. J Ultrasound. 2021. PMID: 31256365 Free PMC article. Review.
Duchenne muscular dystrophy (DMD) is a rare genetic disorder typically presenting with muscle weakness and reduced tone of trunk and lower extremities. The sonoelastographic properties of DMD are poorly understood. We describe sonoelastographic characteristics of a patient …
Duchenne muscular dystrophy (DMD) is a rare genetic disorder typically presenting with muscle weakness and reduced tone of trunk and lower …
The importance of sensory-motor control in providing core stability: implications for measurement and training.
Borghuis J, Hof AL, Lemmink KA. Borghuis J, et al. Sports Med. 2008;38(11):893-916. doi: 10.2165/00007256-200838110-00002. Sports Med. 2008. PMID: 18937521 Review.
Although the hip musculature is found to be very important in connecting the core to the lower extremities and in transferring forces from and to the core, it is proposed to leave the hip musculature out of consideration when talking about the concept of core …
Although the hip musculature is found to be very important in connecting the core to the lower extremities and in transferring …
Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.
Berciano J, García A, Gallardo E, Ramón C, Combarros O. Berciano J, et al. Adv Exp Med Biol. 2009;652:183-200. doi: 10.1007/978-90-481-2813-6_12. Adv Exp Med Biol. 2009. PMID: 20225026 Review.
We mainly focus on four phenotypic hallmarks: (i) "classic" phenotype, as currently observed in proband patients; (ii) evolution of mild phenotype of secondary cases in infancy and early childhood; (iii) proximal lower-limb musculature involvement as a late phenotypic feat …
We mainly focus on four phenotypic hallmarks: (i) "classic" phenotype, as currently observed in proband patients; (ii) evolution of mild phe …
Digitalization of the second finger in type 2 central longitudinal deficiencies (clefting) of the hand.
Oberlin C, Korchi A, Belkheyar Z, Touam C, Macquillan A. Oberlin C, et al. Tech Hand Up Extrem Surg. 2009 Jun;13(2):110-2. doi: 10.1097/BTH.0b013e31819f20a2. Tech Hand Up Extrem Surg. 2009. PMID: 19516138 Review.
This technique is easier and safer and does not impair the normal thumb musculature compared with the classic Snow-Littler procedure....
This technique is easier and safer and does not impair the normal thumb musculature compared with the classic Snow-Littler procedure. …
Kinetic chain abnormalities in the athletic shoulder.
Sciascia A, Thigpen C, Namdari S, Baldwin K. Sciascia A, et al. Sports Med Arthrosc Rev. 2012 Mar;20(1):16-21. doi: 10.1097/JSA.0b013e31823a021f. Sports Med Arthrosc Rev. 2012. PMID: 22311288 Review.
However, tissue injury and anatomic deficits such as weakness and/or tightness in the leg, pelvic core, or scapular musculature can lead to overuse shoulder injuries. These injuries can be prevented and maladaptations can be detected with a thorough understanding of biomec …
However, tissue injury and anatomic deficits such as weakness and/or tightness in the leg, pelvic core, or scapular musculature can l …
20 results