His translational/clinical work also included enzymatic discoveries in the complex muscle-eye-brain diseases (e.g. congenital ... muscular dystrophy) associated with defective O-glycosylation. He has published over 160 scientific papers, reviews, and ... an autosomal recessive disease with defective brain development". Am. J. Hum. Genet. 59 (4): 810-7. PMC 1914797. PMID 8808595. ... conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis". ...
... a program for predictive testing of Huntington's disease and was involved in research into motor neuron disease and muscular ... In 1978, Kailis successfully contained the spread of disease in the family's pearl farms by insisting on hygienic practices in ... Order of the British Empire for her contributions in the fields of carrier detection and the detection of inherited diseases. ...
... infectious disease, muscular disorders and possibly will provide therapeutic tools. Autophagy Apoptosis Ubiquitin Development ... This would allow researchers to further understand their contribution to disease such as cancer, neurodegeneration, ...
A family quartet was found with two children, both affected with a previously unreported disease, characterized by progressive ... muscular weakness and cardiomyopathy, with normal intelligence. During the course of the study, one additional unrelated ... 2013). "Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with ... 2013). "Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with ...
... a rare chronic autoimmune disease marked by muscular weakness without atrophy. Due to Amitabh's illness and his commitments to ...
Chondrolectin is alternatively spliced in the spinal cord of mouse models of the neuromuscular disease, spinal muscular atrophy ... Increased levels of chondrolectin in a zebrafish model of SMA results in significant improvements in disease-related motor ... "Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy". PLOS Genet. 5 (12): ... "Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy". Hum Mol ...
... sickle cell disease, Tay-Sachs disease, muscular dystrophy. Establishing a genetic diagnosis can provide information to other ... Other autosomal dominant diseases can be inherited from one parent, such as Huntington disease and DiGeorge syndrome. Yet other ... The goals of genetic counseling are to increase understanding of genetic diseases, discuss disease management options and ... More than 1 in 200 people have an inherited cardiovascular disease. Hereditary cardiac conditions range from common diseases, ...
Seed: anthelmintic for roundworm, threadworm Root: treatment of venereal diseases: anthelminithic Leaf: relieves muscular pain ... and curing venereal disease (the parts used are roots and wood). Studies of the chemical constituents of this plant have ...
... for an orphan disease known as Duchenne muscular dystrophy (DMD), is being developed by pharmaceutical giant, GlaxoSmithKline ( ... glycogen storage disease type II, also called Pompe's disease. In the face of the children's deteriorating health, the family ... which includes the first treatment for Pompe disease." Prosensa, like Genzyme focuses on rare inherited diseases. By 2012 ... He will always be known as the guy who figured out how to build a great business by making drugs for rare diseases. An ...
Genetic diseases and disorders, All stub articles, Genetic disorder stubs, Nervous system disease stubs). ... Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very ... Spinal muscular atrophies Distal hereditary motor neuropathies Christodoulou, K; Zamba, E; Tsingis, M; Mubaidin, A; Horani, K; ... v t e v t e (Articles with short description, Short description is different from Wikidata, Muscular disorders, ...
The peripheral nerve diseases Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) ... "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V". American ... "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V". American ... Two mouse models of CMT2D have been used to better understand the disease, identifying that the disorder is caused by a toxic ...
This technique would be used for similar diseases, like amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). ... is a suggested method for treating such diseases like Alzheimer's disease (AD). This includes for understanding the differences ... As mentioned, it will also lead to patient specific phenotypes of each disease. Further chemical analyses to develop safer ... Application of research in this field could lead to drug discovery and information on diseases by the molecular ...
Alexander Disease, and muscular dystrophy. Different intermediate filaments are: made of vimentins. Vimentin intermediate ... Research into neurodegenerative disorders such as Parkinson's disease, Alzheimer's disease, Huntington's disease, and ... Parkinson's disease is marked by the degradation of neurons, resulting in tremors, rigidity, and other non-motor symptoms. ... In Alzheimer's disease, tau proteins which stabilize microtubules malfunction in the progression of the illness causing ...
... by sequestering at normal splice sites has been shown to lead to RNA-splicing defects that lead to muscular diseases. ...
The university also conducts its activities at the Hospital for Muscular and Neuromuscular Diseases and the Novi Pazar Sport ...
He has a wife and one child (Chris Carrino II). Carrino has been diagnosed with facioscapulohumeral muscular dystrophy (FSHD), ... a disease the causes progressive weakening of the muscles, for which the Chris Carrino Foundation was created. Carrino ...
... muscular dystrophy, spinal cord diseases, cerebral palsy). She set up a multidisciplinary clinic, bringing together ... She did her Residency in Neurology at UCLA 1976-1979 followed by a two-year Muscular Dystrophy Association Fellowship in ... After finishing her training in general neurology, Dr Perlman began specialty work in chronic diseases of the neuromuscular ...
In the case of diseases causing neurological or muscular impairment of muscles surrounding the knee, a KO can prevent flexion, ... with muscular fatigue) This sequence of muscle function test and six-minute walk test is used to determine whether muscular ... or by diseases such as spina bifida, poliomyelitis and Charcot-Marie-Tooth disease. In these patients, knowledge of the ... A knee brace is not meant to treat an injury or disease on its own, but is used as a component of treatment along with drugs, ...
... of Rev-ErbAα antagonists in the treatment of conditions such as Duchenne muscular dystrophy and Alzheimer's disease. GSK4112 ... microglial amyloid-beta clearance and reduces amyloid plaque deposition in the 5XFAD mouse model of Alzheimer's disease". Aging ...
Henriques, Carolina (25 September 2017). "CureDuchenne Takes $50K Prize at Shark Tank-Style Rare Disease Competition". Muscular ... In 2015, the Be HEARD science challenge resulted in over $600,000 in awards to 31 rare disease research programs. In 2017, ... Its goal was to empower researchers, protect healthcare workers and help cure this disease.The website connected COVID-19 ... Starr, Barry (22 October 2012). "Be HEARD: A Rare Disease Science Challenge To Find Cures". KQED Science. Retrieved 7 August ...
Usually, the disease follows an autosomal recessive inheritance pattern, requiring both CAPN3 alleles to be mutated for disease ... Facioscapulohumeral muscular dystrophy (FSHD) can present similarly, although facial weakness and asymetrical weakness is ... Disease severity varies greatly, even between family members with identical mutations. Age of onset is highly variable, ... As of 2019, more than 480 CAPN3 mutations have been reported, some of which can be associated with severe or benign disease ...
... to allow mitochondrial replacement therapy to prevent the birth of the children with incurable diseases such as muscular ... These diseases affect up to 1 in 6,500 babies which Leigh stated could lead to people being "harvested for their parts" and a ...
Its role in heat shock response presents it as a target for treating related diseases like spinal and bulbar muscular atrophy ( ... eEF1A1 is downregulated in myocardial infarction and potentially participates in cardiovascular disease through its ... combined with altered levels of eEF1A-derived bacterial peptides in neoplastic disease, may lead to autoimmunity in breast ...
Choosing the sex of children might help prevent sex-associated heritable diseases such as Duchene muscular dystrophy or ... There were 31 countries in 2009 which allowed sex selection in case of sex-linked disease risk or other medical purpose. In the ... such as having a disease with sex linkage or having at least one child (for family balancing). There are currently MicroSort ... some only offering service in case of genetic disease risks associated with one sex). While highly accurate, sperm sorting by ...
However, the disorder may arise secondary to general neuropathies, generalized neuromuscular diseases, muscular diseases, ... If medical therapy is unsuccessful and surgery cannot be performed due to concurrent disease (such as heart or lung problems) ... or mediastinal diseases or other possible causes of the symptoms often seen with LP. Some vets may also recommend running a ... or cost, euthanasia may be necessary if the animal's quality of life is considered unacceptable due to the disease. Stanley BJ ...
Molecular Basis of Disease. The Muscular Dystrophies: Molecular Basis and Therapeutic Strategies. 1772 (2): 229-237. doi: ... Many forms of muscular dystrophy are associated with disorders of the dystrophin-associated protein complex. Muscular dystrophy ... The most common form is known as Duchenne muscular dystrophy (DMD). DMD is usually discovered in early childhood and is most ... While treatment for DMD has been observed to improve muscle function and quality of life, a cure to the debilitating disease ...
... for instance the diseases belonging to the spinal muscular atrophies group. However, they are not classified as "motor neuron ... Symptoms of motor neuron diseases can be first seen at birth or can come on slowly later in life. Most of these diseases worsen ... Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect ... Motor neuron diseases affect both children and adults. While each motor neuron disease affects patients differently, they all ...
October 2012). "Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a ... Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD). This gene is located within a D4Z4 ... Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy (FSHD). Overexpression ... Schätzl, T; Kaiser, L; Deigner, HP (12 March 2021). "Facioscapulohumeral muscular dystrophy: genetics, gene activation and ...
Its excretion in the urine may also be changed in Hartnup disease and celiac disease, as well as photodermatosis, muscular ...
"Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V". The ... It is common for them to be called "spinal forms of Charcot-Marie-Tooth disease (CMT)", because the diseases are closely ... Mutations on chromosome 7 have been linked to this disease. It is allelic (i.e., caused by mutations on the same gene) with ... The diagnostic difference in these diseases is the presence of sensory loss in the extremities. There are seven classifications ...
... they reduce the prevalence of pseudoparkinsonism which causes tremors and muscular rigidity similar to Parkinson's disease. The ... "Diseases of the Mind: Highlights of American Psychiatry through 1900 - Benjamin Rush". www.nlm.nih.gov. Retrieved 2017-08-07. " ... Benjamin Rush and "Diseases of the Mind"". Addiction Inbox. Retrieved 2017-08-07. Holmes, Oliver Wendell (1850). The ... Ban, Thomas A (August 2007). "Fifty years chlorpromazine: a historical perspective". Neuropsychiatric Disease and Treatment. 3 ...
"Becker muscular dystrophy". NIH. Retrieved 17 April 2016. "Becker muscular dystrophy , Genetic and Rare Diseases Information ... "Becker muscular dystrophy , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". Archived from the original ... Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene ... Becker muscular dystrophy at Curlie Scholia has a topic profile for Becker muscular dystrophy. (CS1 errors: missing periodical ...
"Ullrich congenital muscular dystrophy , Disease , Treatment , Genetic and Rare Diseases Information Center (GARD) - an NCATS ... Myoneural junction and neuromuscular diseases, Collagen disease, Diseases named for discoverer, Rare diseases). ... Muscular dystrophy Congenital muscular dystrophy Bethlem myopathy "Orphanet: Congenital muscular dystrophy, Ullrich type". www. ... Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy. There are two forms: UCMD1 and UCMD2. ...
There is an increased risk of coronary heart disease. Cardiomyopathy and muscular dystrophy may occur rarely. Xanthoma and nail ... Calf muscular hypertrophy may occur. Type 5 is due to mutations in the AKT2 gene. It has been reported in four patients all ... 2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. Herbst KL, Tannock LR, ...
... a Russian computer programmer who has spinal muscular atrophy, a muscle-wasting disease. However, Spiridonov later cancelled ... Canavero has completed studies on central pain syndrome and Parkinson's disease. He started his work on head transplantation in ...