Gait Abnormalities in Children with Phelan-McDermid Syndrome

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

(2021) Tess Levy et al.   HUMAN MOLECULAR GENETICS

A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

(2020) Na Xu et al.   Orphanet Journal of Rare Diseases

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

(2018) Silvia De Rubeis et al.   Molecular Autism

Gait dyspraxia as a clinical marker of cognitive decline in Down syndrome: A review of theory and proposed mechanisms

(2016) Amelia J. Anderson-Mooney et al.   BRAIN AND COGNITION

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

(2014) Sara M. Sarasua et al.   HUMAN GENETICS

Higher-level gait disorders: An open frontier

(2013) John G. Nutt   MOVEMENT DISORDERS

Neurophysiology of gait: From the spinal cord to the frontal lobe

(2013) Kaoru Takakusaki   MOVEMENT DISORDERS

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

(2013) Latha Soorya et al.   Molecular Autism

Assessing the Temporal Relationship Between Cognition and Gait: Slow Gait Predicts Cognitive Decline in the Mayo Clinic Study of Aging

(2012) M. M. Mielke et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Video analysis software increases the interrater reliability of video gait assessments in children with cerebral palsy

(2011) S. Borel et al.   GAIT & POSTURE

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

(2010) S.U. Dhar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of unsupported gait in toddlers with autism

(2010) Gianluca Esposito et al.   BRAIN & DEVELOPMENT

Gait patterns in children with autism

(2010) Matthew Calhoun et al.   CLINICAL BIOMECHANICS

Higher level gait disorders in subcortical chronic vascular encephalopathy: a single photon emission computed tomography study

(2009) M. C. Carboncini et al.   AGE AND AGEING

The role of executive function and attention in gait

(2007) Galit Yogev-Seligmann et al.   MOVEMENT DISORDERS