Results 251 to 260 of about 12,291 (335)

MULTIPLE SCLEROSIS AND DYSPHAGIA [PDF]

, 2011
Cheak, Erin M
core   +1 more source

Editorial: Craniofacial neuroscience. [PDF]

Front Neurol
Huff A, Katsura KA, Pitts T.
europepmc   +1 more source

‘He Can Be Whatever He Wants to Be!?’: How Parents of a Child With a Disability Navigate Their Expectations for Their Child's Achievement and Success

Child &Family Social Work, EarlyView.
ABSTRACT Parents of children with disabilities (PCD) often struggle with a complex feelings comprised of joy and despair. On the one hand, they try to accept their child's disability; on the other hand, they fear that this acceptance may lower their aspirations for their child.
Menny Malka, Noga Rahat‐Drihem
wiley   +1 more source

[Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)]. [PDF]

Pan Afr Med J
Iddir S, Lounis B, Ouarab M, Guendoud T, Feghoul C, Benarab K, Hamzaoui A, Benssadi N.   +7 more
europepmc   +1 more source

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

Effects of chemoradiation and tongue exercise on swallow biomechanics and bolus kinematics. [PDF]

Head Neck
Schaen-Heacock NE, Rowe LM, Ciucci MR, Russell JA.   +3 more
europepmc   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Psychosocial Impacts of Huntington's Disease on Individuals, Relatives and Family Systems: A Thematic Synthesis

Clinical Genetics, EarlyView.
The psychosocial impacts of Huntington's disease include disintegration with society, emotional and psychological burdens, an interplay of extrinsic stressors and recalibration of the family system. This thematic synthesis highlights the need for holistic, systemic support to address these pervasive challenges for all members of the affected family ...
Paige Lindo, Tierney Tindall, Suzanne Buswell, Selina Lock, Sarah Gunn   +4 more
wiley   +1 more source

Frequency of dysphagia among patients submitted to a rheumatology department: a cross-sectional analysis based on the EAT-10 questionnaire. [PDF]

Rheumatol Int
Pardali EC, Kontouli KM, Manolakis A, Detopoulou P, Argyriou K, Tsakmaki IΑ, Simopoulou T, Katsiari CG, Goulis DG, Kapsoritakis A, Bogdanos DP, Grammatikopoulou MG.   +11 more
europepmc   +1 more source

The Feeding-swallowing Impact Survey: Reference Values from a UK Sample of Parents of Children Without a Known or Suspected Feeding Disorder. [PDF]

Dysphagia
Stewart A, Hoeve EV, Mustafa A, Lefton-Greif MA, Ridout D, Smith CH.   +5 more
europepmc   +1 more source