Results 61 to 70 of about 2,627 (212)

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1134-1137, May 2026.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Dissociating object directed and non-object directed action in the human mirror system; implications for theories of motor simulation. [PDF]

, 2012
Mirror neurons are single cells found in macaque premotor and parietal cortices that are active during action execution and observation. In non-human primates, mirror neurons have only been found in relation to object-directed movements or communicative ...
Agnew, ZK, Leech, R, Wise, RJ
core   +1 more source

A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education

Clinical Anatomy, Volume 39, Issue 4, Page 436-460, May 2026.
ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley, Brooke Willoughby, Alexandra L. Webb, Natasha A. M. S. Flack, Laura Y. Whitburn   +4 more
wiley   +1 more source

Respiratory Inhibitory Apraxia [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1975
SUMMARY:Ten patients have been described showing inability to stop breathing on command, spontaneous respiration and voluntary respiratory stimulation being unaffected. This abnormality not previously described in the literature, we feel should be named respiratory inhibitory apraxia (R.I.A.).
E A, Atack, L, Suranyi
openaire   +2 more sources

Broca's aphemia: an illustrated account of its clinico-anatomic validity Afemia de Broca: um relato ilustrado sobre sua validade anátomo-clínica

Arquivos de Neuro-Psiquiatria, 2007
OBJECTIVE: To present the case of a 54-year-old man with loss of speech, but with preservation of voluntary facio-lingual motility, language and other cognitive abilities (Broca's aphemia).
Ricardo de Oliveira-Souza, Jorge Moll, Egas M.A. Caparelli-Dáquer   +2 more
doaj   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
wiley   +1 more source

Test of Ideational Praxis (TIP): Preliminary Findings and Interrater and Test–Retest Reliability With Preschoolers [PDF]

, 2014
Praxis is the ability of the brain to develop an idea for action and plan, organize, and execute unfamiliar motor actions. It enables purposeful interaction with people and things in the environment.
Ivey, Carol K., Lane, Shelly J., May-Benson, Teresa A.   +2 more
core   +2 more sources

Processos de substituição e variabilidade articulatória na fala de sujeitos com dispraxia verbal Substitution processes and articulatory variability in the speech of subjects with verbal dyspraxia

Revista da Sociedade Brasileira de Fonoaudiologia, 2009
O objetivo do presente estudo foi analisar o papel das variáveis linguísticas na ocorrência dos processos de substituição na fala de sujeitos com dispraxia verbal (DV).
Inaê Costa Rechia, Ana Paula Ramos de Souza, Carolina Lisboa Mezzomo, Michele Paula Moro   +3 more
doaj   +1 more source

Long‐Term Speech Outcomes in Moderate‐to‐Severe Childhood Speech Sound Disorder: A Systematic Review

International Journal of Language &Communication Disorders, Volume 61, Issue 3, May/June 2026.
ABSTRACT Background Parents of children with moderate‐to‐severe speech sound disorder presenting to clinic want to understand prognosis for their child; however, there is unclear evidence as to the specific long‐term speech outcomes in this group.
Alexandra J. Garrett, Sermin Tukel, Angela T. Morgan   +2 more
wiley   +1 more source

Oral dyspraxia in self-limited epilepsy with centrotemporal spikes: a comparative study with a control group

Arquivos de Neuro-Psiquiatria
Background: self-limited epilepsy with centrotemporal spikes, previously considered benign focal childhood epilepsy with centrotemporal spikes show clinical signs of involvement of Rolandic areas, mainly lower area, which may affect the planning and ...
Henrique Nicola Santo Antonio BERNARDO, Carmen Sílvia Molleis Galego MIZIARA, Maria Luiza Giraldes de MANREZA, Letícia Lessa MANSUR   +3 more
doaj   +1 more source