Results 61 to 70 of about 641,821 (189)

Demographics of spinal and bulbar muscular atrophy (SBMA) patients.

, 2015
Demographics of spinal and bulbar muscular atrophy (SBMA) patients.
Wang Ni (654386), Kai Qiao (713040), Ning Wang (108353), Sheng Chen (21971), Zhi-Ying Wu (654388)   +4 more
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Spinal Muscular Atrophy Lab

, 2022
Lo Spinal Muscular Atrophy Lab è il primo “laboratorio” di management che ha l’obiettivo di supportare i sistemi sanitari (regionali e aziendali), i professionisti e i pazienti nel migliorare la qualità delle cure per le persone affette da ...
Tozzi, Valeria D., Ferrara, Lucia, Dalponte, Federica   +2 more
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Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation

Frontiers in Genetics
A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development.
Ewa Gajewska, Jędrzej Fliciński, Magdalena Sobieska, Joanna Michalska, Marcin Żarowski, Barbara Steinborn   +5 more
doaj   +1 more source

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman, Boardman, Felicity K.   +1 more
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Carrier testing for spinal muscular atrophy.

, 2010
Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer
Crawford, Thomas O, Gonye, Karla, Kaufmann, Petra, Heine, Deborah, Musci, Thomas, Cwik, Valerie, Fischbeck, Kenneth, Sugarman, Ela, MacKenzie, Alex, Prior, Thomas, Keiles, Steven, Hobby, Kenneth, Lloyd-Puryear, Michele, Gitlin, Jonathan M, Fleischman, Alan   +14 more
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Rehabilitation management for patients with spinal muscular atrophy: a review

Orphanet Journal of Rare Diseases
The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj   +1 more source

Spinal Muscular Atrophy— Summary for Nutritional Care

, 2010
The Consensus Statement for Standard of Care in Spinal Muscular Atrophy was published in 2007 and provided guidance for interdisciplinary teams charged with the care of patients with spinal muscular atrophy (SMA).
Susan Konek, Donna DiVito
core   +1 more source

A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]

, 2012
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Handschin, Christoph, Arnold, Anne-Sophie, Christe, Martine, Christe M, Arnold AS, Handschin C   +5 more
core   +1 more source

The role of experiential knowledge in the reproductive decision making of families genetically at risk : the case of spinal muscular atrophy [PDF]

This study reports on the analysis of 59 in-depth interviews conducted with people diagnosed with, or from families affected by, Spinal Muscular Atrophy (SMA).
Boardman, Felicity K.
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Polysomnography findings in pediatric spinal muscular atrophy types 1–3

, 2020
Polysomnography findings in pediatric spinal muscular atrophy types 1–
A Chacko (13367877), L Gauld (13367883), PD Sly (14453628)   +2 more
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