A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Rett syndrome (RTT) is an inherited neurodevelopmental disorder of females that occurs
once in 10,000–15,000 births 1, 2. Affected females develop normally for 6–18 months, but …
once in 10,000–15,000 births 1, 2. Affected females develop normally for 6–18 months, but …
Mutations in dynein link motor neuron degeneration to defects in retrograde transport
M Hafezparast, R Klocke, C Ruhrberg, A Marquardt… - Science, 2003 - science.org
Degenerative disorders of motor neurons include a range of progressive fatal diseases such
as amyotrophic lateral sclerosis (ALS), spinal-bulbar muscular atrophy (SBMA), and spinal …
as amyotrophic lateral sclerosis (ALS), spinal-bulbar muscular atrophy (SBMA), and spinal …
[HTML][HTML] Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion
DC Blaydon, P Biancheri, WL Di… - … England Journal of …, 2011 - Mass Medical Soc
We performed genetic and immunohistochemical studies in a sister and brother with
autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly …
autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly …
The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group
CH Knowles, R De Giorgio, RP Kapur, E Bruder… - Gut, 2010 - gut.bmj.com
Objective Guidelines on histopathological techniques and reporting for adult and paediatric
gastrointestinal neuromuscular pathology have been produced recently by an international …
gastrointestinal neuromuscular pathology have been produced recently by an international …
Gastrointestinal neuromuscular pathology: guidelines for histological techniques and reporting on behalf of the Gastro 2009 International Working Group
CH Knowles, R De Giorgio, RP Kapur, E Bruder… - Acta …, 2009 - Springer
The term gastrointestinal neuromuscular disease describes a clinically heterogeneous
group of disorders of children and adults in which symptoms are presumed or proven to …
group of disorders of children and adults in which symptoms are presumed or proven to …
SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice
DC Rogers, JO Peters, JE Martin, S Ball… - Neuroscience …, 2001 - Elsevier
Mouse models of neurological abnormalities are only valuable if accurately assessed. The
three-stage SHIRPA procedure is used for the standardised assessment of mouse …
three-stage SHIRPA procedure is used for the standardised assessment of mouse …
The pathology of ageing: concepts and mechanisms
JE Martin, MT Sheaff - The Journal of Pathology: A Journal of …, 2007 - Wiley Online Library
The rising numbers and proportion of aged individuals in the population is a global
demographic trend. The diseases associated with ageing are becoming more prevalent, and …
demographic trend. The diseases associated with ageing are becoming more prevalent, and …
[PDF][PDF] DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
C Canzonetta, C Mulligan, S Deutsch, S Ruf… - The American Journal of …, 2008 - cell.com
Down syndrome (DS) is the most common cause of mental retardation. Many neural
phenotypes are shared between DS individuals and DS mouse models; however, the …
phenotypes are shared between DS individuals and DS mouse models; however, the …
Early postnatal death and motor disorders in mice congenitally deficient in calnexin expression
A Denzel, M Molinari, C Trigueros… - … and cellular biology, 2002 - Taylor & Francis
Calnexin is a ubiquitously expressed type I membrane protein which is exclusively localized
in the endoplasmic reticulum (ER). In mammalian cells, calnexin functions as a chaperone …
in the endoplasmic reticulum (ER). In mammalian cells, calnexin functions as a chaperone …
Full-thickness biopsy findings in chronic intestinal pseudo-obstruction and enteric dysmotility
G Lindberg, H Törnblom, M Iwarzon, B Nyberg… - Gut, 2009 - gut.bmj.com
Background and Aims: Small bowel manometry is increasingly used in the clinical
investigation of patients with symptoms of intestinal motor dysfunction. Enteric dysmotility …
investigation of patients with symptoms of intestinal motor dysfunction. Enteric dysmotility …