Results 161 to 170 of about 13,759 (208)

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons. [PDF]

Int J Mol Sci
Perrin A, Garcia-Uzquiano R, Stojkovic T, Tard C, Metay C, Bergougnoux A, Van Goethem C, Thèze C, Larrieux M, Faure-Gautron H, Laporte J, Lefebvre G, Krahn M, Juntas-Morales R, Titin's Network Collaborators, Koenig M, Quijano-Roy S, Carlier RY, Cossée M.   +18 more
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65th Annual Meeting of the Canadian Association of Neuropathologists - Association canadienne des neuropathologistes (CANP-ACNP): October 23^rd-25^th, 2025 Banff, Alberta. [PDF]

Free Neuropathol
europepmc   +1 more source

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Arthrogryposis

2011
♦ A rare condition with the potential to cause serious physical disability♦ Early recognition and treatment reduces the impact of the condition on the individual♦ Physiotherapists, occupational therapists, and orthotists play a pivotal role in patient management and a coordinated multidisciplinary team is required♦ Many children need orthopaedic ...
Harish S. Hosalkar, Denis S. Drummond, Richard S. Davidson   +2 more
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Arthrogryposis Multiplex Congenita

Pediatric Annals, 2020
Arthrogryposis multiplex congenita (AMC) is a complex, etiologically diverse, clinical descriptor identified in a variety of diagnoses characterized by multiple congenital joint contractures. The root cause of AMC is decreased fetal movement in-utero, whether resulting from maternal or pregnancy influences, nervous system pathology, or an ...
Seth, Langston, Alison, Chu
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ARTHROGRYPOSIS

Pediatrics, 1956
Three typical cases of arthrogryposis are presented. Neurological examination points to involvement of the central nervous system in this illness. Repeated muscle biopsies in all 3 patients and a complete post-mortem examination in 1, suggest that this may be an infantile form of neuromuscular atrophy rather than a primary
Abram Kanof, Stanley M. Aronson, Bruno W. Volk   +2 more
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Arthrogryposis

2021
Emma Levine, Ann E. Van Heest
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Arthrogryposis Multiplex Congenita

Neonatal Network, 2001
Arthrogryposis multiplex congenita (AMC) is a term that is used to describe the presence of multiple joint contractures at birth. AMC can be seen singularly or in conjunction with other abnormalities. Historically, the termarthrogryposiswas used as a disease diagnosis, but it is now clear that AMC is not a disease entity but a syndrome, involving a ...
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Arthrogryposis

2010
Javad Parvizi, Gregory K. Kim
  +4 more sources