Find link

language:

Find link is a tool written by Edward Betts.

searching for Spinal muscular atrophy 135 found (390 total)

alternate case: spinal muscular atrophy

Laura Hershey (1,229 words) [view diff] exact match in snippet view article find links to article

justice, and her spirited refusal to let social responses to her spinal muscular atrophy define the parameters of her life as anything less than a full

Karni Liddell (434 words) [view diff] case mismatch in snippet view article find links to article

presenter for 4BC. At twelve months old, Liddell was diagnosed with Spinal Muscular Atrophy a rare neuromuscular wasting disease. Karni was misdiagnosed for

Marek Plura (118 words) [view diff] no match in snippet view article find links to article

Marek Mirosław Plura (18 July 1970 – 20 January 2023) was a Polish politician, social activist, and psychotherapist. He was a two-time member of the Polish

Artemis Joukowsky III (488 words) [view diff] exact match in snippet view article find links to article

co-founded the Highland Energy Group. Joukowsky was diagnosed with spinal muscular atrophy type III at age 14. He is the co-founder with Larry Rothstein of

CHCHD10 (825 words) [view diff] exact match in snippet view article find links to article

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2), Spinal muscular atrophy, Jokela type (SMAJ). Frontotemporal dementia and/or amyotrophic

Alfred Vulpian (285 words) [view diff] exact match in snippet view article find links to article

and neurologist. He was the co-discoverer of Vulpian-Bernhardt spinal muscular atrophy and the Vulpian-Heidenhain-Sherrington phenomenon. Vulpian was

Small nuclear ribonucleoprotein D1 (1,522 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". The Journal of Cell

Glycine—tRNA ligase (1,940 words) [view diff] exact match in snippet view article find links to article

diseases Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) have been liked to dominant mutations in GARS.

François-Amilcar Aran (217 words) [view diff] exact match in snippet view article find links to article

Saint-Antoine. With Duchenne de Boulogne, the eponymous "Aran-Duchenne spinal muscular atrophy" is named. Aran first described the disease in an article titled

FBXO38 (204 words) [view diff] exact match in snippet view article find links to article

gene. Mutations in the FBXO38 gene are associated with distal spinal muscular atrophy with calf predominance. FBXO38 controls the composition of centromeric

SNRPD3 (1,183 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". J. Cell Biol. 147 (6):

SNRPB (1,171 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". J. Cell Biol. 147 (6):

DDX20 (1,639 words) [view diff] exact match in snippet view article find links to article

component of the survival of motor neuron (SMN) complex. SMN is the spinal muscular atrophy gene product, and may play a catalytic role in the function of

Haluk Topaloglu (1,096 words) [view diff] exact match in snippet view article find links to article

as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). He was involved in a two-part consensus on the standard of care for spinal muscular

HSPB8 (1,282 words) [view diff] exact match in snippet view article find links to article

rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy". Ann. Neurol. 20 (4): 538–40. doi:10.1002/ana.410200417. PMID 3789668

Elena García Armada (1,539 words) [view diff] exact match in snippet view article find links to article

that has developed the first bionic exoskeleton for children with spinal muscular atrophy, for which she received the European Inventor Award Popular Prize

Small nuclear ribonucleoprotein polypeptide F (984 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". The Journal of Cell

SNRPG (1,144 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". J. Cell Biol. 147 (6):

Coilin (1,351 words) [view diff] exact match in snippet view article find links to article

2001). "Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein". Genes Dev. 15 (20): 2720–9. doi:10.1101/gad.908401. PMC 312817

Small nuclear ribonucleoprotein polypeptide E (1,093 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". The Journal of Cell

Marcel Nuss (119 words) [view diff] exact match in snippet view article find links to article

sexuality of disabled people. Nuss was himself severely handicapped by spinal muscular atrophy. Nuss was born in Strasbourg on 13 February 1955, and died on 13

Assistive eating devices (1,023 words) [view diff] exact match in snippet view article find links to article

Sclerosis (ALS, also known as Lou Gehrig's disease), cerebral palsy, spinal muscular atrophy (SMA), and many other conditions, a powered device can facilitate

Small nuclear ribonucleoprotein D2 (1,233 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". J. Cell Biol. 147 (6)

LSM2 (1,309 words) [view diff] exact match in snippet view article find links to article

"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". The Journal of Cell

Spotlight Innovation (1,566 words) [view diff] exact match in snippet view article find links to article

STL-182 with potential therapeutic potential for the treatment of spinal muscular atrophy. Early preclinical testing of STL-182 was accomplished by Dr. Elliot

Hoffmann syndrome (1,269 words) [view diff] exact match in snippet view article find links to article

is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). It was first documented in 1897 by Johann Hoffmann. It has adult-onset

SNRPB2 (844 words) [view diff] exact match in snippet view article find links to article

PMID 9016565. Liu Q, Fischer U, Wang F, Dreyfuss G (1997). "The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are

HNRNPR (1,425 words) [view diff] exact match in snippet view article find links to article

Sendtner M (January 2002). "Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role

Signal recognition particle (1,209 words) [view diff] case mismatch in snippet view article find links to article

RNA-Processing Dysfunction in Spinal Muscular Atrophy". In Sumner CJ, Paushkin S, KO CP (eds.). Spinal Muscular Atrophy. Academic Press. pp. 113–131.

VAPB (1,298 words) [view diff] exact match in snippet view article find links to article

mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis". American Journal of Human Genetics

Irene Miguel-Aliaga (714 words) [view diff] exact match in snippet view article find links to article

tract of Drosophila melanogaster Miguel-Aliaga, Irene (2000). Spinal muscular atrophy : of flies, worms and men. ox.ac.uk (DPhil thesis). University

Guillaume Duchenne de Boulogne (3,855 words) [view diff] exact match in snippet view article find links to article

immortalize his name, Duchenne muscular dystrophy, Duchenne-Aran spinal muscular atrophy, Duchenne-Erb paralysis, Duchenne's disease (Tabes dorsalis), and

GTF2H2 (1,407 words) [view diff] exact match in snippet view article find links to article

sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes

List of neurologists and neurosurgeons (118 words) [view diff] exact match in snippet view article find links to article

syndrome A François-Amilcar Aran 1817 - 1861 France Aran–Duchenne spinal muscular atrophy A Antônio Austregésilo 1876 - 1960 Brazil B Joseph Babinski 1857

Distal hereditary motor neuropathy type V (907 words) [view diff] exact match in snippet view article find links to article

"Adenoviral-mediated mouse model of motor impairment in distal spinal muscular atrophy type V". Animal Cells and Systems. 18 (5): 311–317. doi:10.1080/19768354

Autosomal recessive cerebellar ataxia (428 words) [view diff] exact match in snippet view article find links to article

syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Autosomal recessive spinocerebellar ataxia-blindness-deafness

Pyruvate dehydrogenase deficiency (2,217 words) [view diff] exact match in snippet view article find links to article

AAV9 vector is currently used in an FDA-approved gene therapy of spinal muscular atrophy (SMA) in infants and children. The Gray Lab at UTSW initiated a

Lateral corticospinal tract (560 words) [view diff] exact match in snippet view article find links to article

can cause motor deficits to the left side of the body. Strokes, spinal muscular atrophy, Brown Sequard Syndrome, poliomyelitis and amyotrophic lateral

Diaphragmatic paradox (185 words) [view diff] exact match in snippet view article find links to article

poliomyelitis can also cause this. In newborns this condition is seen in spinal muscular atrophy. Flail chest (or Paradoxical breathing). "paradoxical diaphragm

U7 small nuclear RNA (3,630 words) [view diff] case mismatch in snippet view article find links to article

diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing"

Priority review (3,432 words) [view diff] exact match in snippet view article find links to article

approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality"

Small nuclear RNA (2,335 words) [view diff] exact match in snippet view article find links to article

we have been able to better understand many important diseases. Spinal muscular atrophy - Mutations in the survival motor neuron-1 (SMN1) gene result in

SERF2 (347 words) [view diff] exact match in snippet view article find links to article

(September 1998). "Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics". Nature Genetics. 20 (1): 83–6. doi:10

Muscular Dystrophy Association (4,963 words) [view diff] exact match in snippet view article find links to article

diseases and their caretakers. Mindy Henderson, diagnosed with type 2 spinal muscular atrophy (SMA) and a patient advocate, is the editor-in-chief as of 2023

CDH12 (647 words) [view diff] exact match in snippet view article find links to article

cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene". Proc Natl Acad Sci U S A. 92 (9): 3702–6. Bibcode:1995PNAS

George Englund (429 words) [view diff] exact match in snippet view article find links to article

Center for the Arts. Max Englund died from complications from spinal muscular atrophy (SMA), a genetic disorder that starts in the central nervous system

Atrophy (886 words) [view diff] exact match in snippet view article find links to article

Atrophy Mouse (right) with spinal muscular atrophy Specialty Pathology Symptoms Loss of body cells, signs of ageing Types Muscular atrophy, gland atrophy

REEP1 (448 words) [view diff] exact match in snippet view article find links to article

(SPG31); Neuronopathy, distal hereditary motor, 5B (HMN5B); Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6). GRCh38: Ensembl release 89: ENSG00000068615

ZNF259 (473 words) [view diff] exact match in snippet view article find links to article

Ospina JK, Frey MR, Hebert MD, Matera AG (July 2002). "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and

Spondyloepimetaphyseal dysplasia, Strudwick type (553 words) [view diff] exact match in snippet view article find links to article

names Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Spondyloepimetaphyseal dysplasia, Strudwick type is inherited in

PLEKHG5 (380 words) [view diff] exact match in snippet view article find links to article

pathway. Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4. This protein has also shown to be highly expressed in several

Nerve tissue protein (1,063 words) [view diff] exact match in snippet view article find links to article

levels. NAIP has been shown to be involved in the inherited disease spinal muscular atrophy. The interaction between NAIP and hippocalcin, a neuronal calcium-sensor

TGS1 (750 words) [view diff] exact match in snippet view article find links to article

"Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron". EMBO Rep. 4 (6): 616–22. doi:10

OSTF1 (667 words) [view diff] exact match in snippet view article find links to article

et al. (2001). "Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation". J. Biol. Chem

Wolf Prize in Medicine (222 words) [view diff] exact match in snippet view article find links to article

discoveries on RNA splicing leading to a world’s first treatment for spinal muscular atrophy (SMA). 2022 No award 2023 Daniel J. Drucker Canada for pioneering

LSM1 (802 words) [view diff] exact match in snippet view article find links to article

and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". J. Biol. Chem. 275 (34): 26370–5.

LSM7 (789 words) [view diff] exact match in snippet view article find links to article

and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". The Journal of Biological Chemistry

LSM5 (617 words) [view diff] exact match in snippet view article find links to article

and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". J. Biol. Chem. 275 (34): 26370–5.

Mir-92 microRNA precursor family (3,686 words) [view diff] exact match in snippet view article find links to article

complex has been correlated with the neurodegenerative disease spinal muscular atrophy. Also present in the same cosediment peak was the eIF2C2 protein

SPN1 (523 words) [view diff] exact match in snippet view article find links to article

PMID 10209022. Narayanan U, Ospina JK, Frey MR, et al. (2003). "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and

LSM3 (876 words) [view diff] exact match in snippet view article find links to article

and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". The Journal of Biological Chemistry

Nucleolar protein, member A1 (866 words) [view diff] exact match in snippet view article find links to article

Terns RM, Terns MP (2003). "Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA

MAP1B (1,060 words) [view diff] exact match in snippet view article find links to article

of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13". Proc. Natl. Acad. Sci. U.S.A. 88 (17): 7873–6.

Posthumous marriage (2,088 words) [view diff] exact match in snippet view article find links to article

(2009-10-05). "Posthumous 'wedding' honors Batavia resident who died of spinal muscular atrophy". The Chicago Tribune. Retrieved 2010-12-07. "Dead Men Don't Get

LSM4 (726 words) [view diff] exact match in snippet view article find links to article

and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". J. Biol. Chem. 275 (34): 26370–5.

Survival motor neuron domain containing 1 (723 words) [view diff] exact match in snippet view article find links to article

Matera AG (2004). "Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein". Mol. Cell. 16 (2): 223–34. doi:10.1016/j.molcel.2004

Cofilin 1 (1,199 words) [view diff] exact match in snippet view article find links to article

Brahe C, van Ommen GJ (1995). "A provisional transcript map of the spinal muscular atrophy (SMA) critical region". Eur. J. Hum. Genet. 3 (2): 87–95. doi:10

Children's Specialized Hospital (1,103 words) [view diff] exact match in snippet view article find links to article

Palsy Neuromuscular and genetic disorders (ie, muscular dystrophy, spinal muscular atrophy, Guillain Barre syndrome, neuropathies, myopathies) New Jersey

3-dehydrosphinganine reductase (699 words) [view diff] exact match in snippet view article find links to article

3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy". Proceedings of the National Academy of Sciences of the United

Choline transporter (774 words) [view diff] exact match in snippet view article find links to article

Mutations in the SLC5A7 gene have been associated with Distal spinal muscular atrophy with vocal cord paralysis (distal hereditary motor neuropathy type

Children's Hospital of Michigan (1,087 words) [view diff] exact match in snippet view article find links to article

Children's is one of 10 centers nationally testing new drugs to treat spinal muscular atrophy, a rare degenerative problem that affects the spinal cord and nerves

LSM6 (523 words) [view diff] exact match in snippet view article find links to article

and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". J. Biol. Chem. 275 (34): 26370–5.

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

atrophy-1; 253300; SMN1 Spinal muscular atrophy-2; 253550; SMN1 Spinal muscular atrophy-3; 253400; SMN1 Spinal muscular atrophy-4; 271150; SMN1 Spinocerebellar

Spike Breakwell (477 words) [view diff] exact match in snippet view article find links to article

Spike Breakwell Spike Breakwell (11 March 2006). "Inside story: spinal muscular atrophy". The Times. UK. Retrieved 8 October 2008. Bev Creagh (19 November

Fibrillarin (1,583 words) [view diff] exact match in snippet view article find links to article

Terns MP (Dec 2002). "Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA

TIA1 (1,285 words) [view diff] exact match in snippet view article find links to article

2011). "TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy". Molecular and Cellular Biology. 31 (5): 935–54. doi:10.1128/MCB

2022 Strathfield state by-election (511 words) [view diff] case mismatch in snippet view article find links to article

Christian Special Religious Education, and a Committee Member of Spinal Muscular Atrophy Australia[citation needed] Labor Jason Yat-Sen Li Executive Chairman

TRA2B (1,112 words) [view diff] exact match in snippet view article find links to article

up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy". Hum. Genet. 107 (6): 554–8. doi:10.1007/s004390000409. PMID 11153908

Scott A. Williams (1,517 words) [view diff] case mismatch in snippet view article find links to article

In 1997, Scott and his wife Catherine had a who was born with Spinal Muscular Atrophy (SMA type 2). The child died at two weeks old. Following this,

GM2A (1,315 words) [view diff] exact match in snippet view article find links to article

activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus". Genomics. 18 (2): 429–31. doi:10.1006/geno.1993.1491. PMID 8288250

PTC Therapeutics (833 words) [view diff] exact match in snippet view article find links to article

announced the FDA approval of Evrysdi (risdiplam) for the treatment of spinal muscular atrophy (SMA) in adults and children 2 months and older. In 2024, Novartis

Robert J. Desnick (3,726 words) [view diff] exact match in snippet view article find links to article

sphingomyelinase deficiency, (2017). Materials and methods for identifying spinal muscular atrophy carriers, (2018). Compositions and methods for inhibiting expression

Bernadette Tobin (905 words) [view diff] exact match in snippet view article find links to article

(with Jordens, C et al.) Journal of Law and Medicine, 19; 2012. Spinal muscular atrophy: do the benefits of ventilation compensate for its burdens? (with

Kim Henry (922 words) [view diff] exact match in snippet view article find links to article

October, Lindsay became very ill. Doctors diagnosed the cause as spinal muscular atrophy, and she died five months later. The Henrys now have two other

Patrizia Paterlini-Bréchot (3,626 words) [view diff] case mismatch in snippet view article find links to article

Bernard Lacour, Patrizia Paterlini-Brechot. Prenatal diagnosis of Spinal Muscular Atrophy (SMA) by genetic analysis of circulating fetal cells, The Lancet

Gregory L. Verdine (1,363 words) [view diff] case mismatch in snippet view article find links to article

Scientific Advisors of the National Cancer Institute, Advisory Board at Spinal Muscular Atrophy Foundation, and the Board of Reviewers at Bill & Melinda Gates

RAB1A (1,403 words) [view diff] exact match in snippet view article find links to article

Jockusch H (Mar 1996). "YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous

Breakthrough Prize in Life Sciences (354 words) [view diff] exact match in snippet view article find links to article

oligonucleotide therapy for children with the neurodegenerative disease spinal muscular atrophy." Ionis Pharmaceuticals Adrian R. Krainer (b. 1958) United States

Greg Zerzan (1,150 words) [view diff] case mismatch in snippet view article find links to article

board of Cure SMA, a non-profit dedicated to finding a cure for Spinal Muscular Atrophy. He is also a board member of the Commodity Markets Council, a

Messenger RNP (1,048 words) [view diff] exact match in snippet view article find links to article

neuropsychiatric disorders. An example of one of these diseases would be spinal muscular atrophy (SMA) which affect the small nuclear ribonucleoprotein (snRNP)

Steve Wilton (1,865 words) [view diff] exact match in snippet view article find links to article

restoring functional expression of the SMN2 gene transcript in spinal muscular atrophy (SMA). 2009 – Paul Harris Fellow, Rotary International 2012 – Western

Degron (1,521 words) [view diff] exact match in snippet view article find links to article

created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity". Genes & Development. 24 (5): 438–442. doi:10.1101/gad

KPNB1 (1,942 words) [view diff] exact match in snippet view article find links to article

Ospina JK, Frey MR, Hebert MD, Matera AG (July 2002). "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and

List of diseases (A) (1,972 words) [view diff] exact match in snippet view article

Arthrogryposis renal dysfunction cholestasis syndrome Arthrogryposis spinal muscular atrophy Arylsulfatase A deficiency Asbestosis Ascariasis Ascher's syndrome

Allen Brain Atlas (1,794 words) [view diff] exact match in snippet view article find links to article

injury, diseases, and disorders such as Lou Gehrig's diseases and spinal muscular atrophy. The project was funded by an array of donors including the Allen

Chromosome 7 (2,949 words) [view diff] exact match in snippet view article find links to article

deferens cystic fibrosis Developmental verbal dyspraxia distal spinal muscular atrophy, type V[citation needed] Ehlers–Danlos syndrome hemochromatosis

J. B. Peiris (1,429 words) [view diff] exact match in snippet view article find links to article

The original descriptions were on Non familial juvenile distal spinal muscular atrophy of upper extremity, a delayed onset Cerebellar syndrome complicating

SYNCRIP (1,950 words) [view diff] exact match in snippet view article find links to article

Sendtner M (January 2002). "Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role

Institute for Clinical and Economic Review (1,623 words) [view diff] case mismatch in snippet view article find links to article

Institute, “A recent ICER review of two breakthrough treatments for Spinal Muscular Atrophy (SMA) concluded that neither therapy met ‘traditional cost-effectiveness

Cellular Dynamics International (1,621 words) [view diff] exact match in snippet view article find links to article

et al. (January 15, 2009). "Induced pluripotent stem cells from a spinal muscular atrophy patient". Nature. 457 (7227): 277–280. Bibcode:2009Natur.457..277E

Protein methylation (2,016 words) [view diff] case mismatch in snippet view article find links to article

Paushkin, S.; Wyce, A.; Dreyfuss, G. (2001). "SMN, the Product of the Spinal Muscular Atrophy Gene, Binds Preferentially to Dimethylarginine-Containing Protein

Bcl-2-associated death promoter (1,980 words) [view diff] exact match in snippet view article find links to article

"Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy". Nature. 390 (6658): 413–7. Bibcode:1997Natur.390..413I. doi:10

Kay Davies (1,362 words) [view diff] exact match in snippet view article find links to article

publications indexed by Google Scholar Miguel-Aliaga, Irene (2000). Spinal muscular atrophy : of flies, worms and men. ox.ac.uk (DPhil thesis). University

Poison exon (5,751 words) [view diff] exact match in snippet view article find links to article

promote exon 7 inclusion in the SMN2 transcript for treatment of spinal muscular atrophy, dose-dependently promotes PE inclusion in the MYB transcript as

Virotherapy (3,468 words) [view diff] exact match in snippet view article find links to article

an AAV vector-based gene therapy product for the treatment of spinal muscular atrophy in children under the age of two. As of August 2019, it is the

Mary Reilly (academic) (1,486 words) [view diff] case mismatch in snippet view article

Mariacristina (6 June 2013). "Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia". American Journal of Human Genetics

Bcl-2-like protein 1 (2,223 words) [view diff] exact match in snippet view article find links to article

"Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy". Nature. 390 (6658): 413–7. Bibcode:1997Natur.390..413I. doi:10

Cadherin-2 (3,399 words) [view diff] exact match in snippet view article find links to article

cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene". Proceedings of the National Academy of Sciences of the United

SCO2 (2,117 words) [view diff] exact match in snippet view article find links to article

BH (March 2004). "Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype". American Journal of Medical Genetics. Part A

Adaptive clothing (1,445 words) [view diff] case mismatch in snippet view article find links to article

of Applied Design: Creating Adaptive Clothing for a Child with Spinal Muscular Atrophy". Art and Design Theses. doi:10.57709/10025817. Kabel, Allison;

Britnee Timberlake (2,689 words) [view diff] exact match in snippet view article find links to article

for breastfeeding support; and screening of newborn infants for spinal muscular atrophy, etc. In 2020, she sponsored a bill to amend the process through

Orphan drug (4,222 words) [view diff] exact match in snippet view article find links to article

the case of Spinraza (Biogen), FDA approved in December 2016 for spinal muscular atrophy, placing a large amount of stress on insurance companies and patients

Inclusive design (3,697 words) [view diff] case mismatch in snippet view article find links to article

of Applied Design: Creating Adaptive Clothing for a Child with Spinal Muscular Atrophy (MAEd thesis). Georgia State University. doi:10.57709/10025817

Diane Coleman (701 words) [view diff] exact match in snippet view article find links to article

Coleman was diagnosed with muscular dystrophy, later identified as spinal muscular atrophy, a condition affecting her motor neurons that required extensive

Shinya Yamanaka (3,481 words) [view diff] exact match in snippet view article find links to article

process. - Amyotrophic lateral sclerosis (ALS), Rett syndrome, spinal muscular atrophy (SMA), α1-antitrypsin deficiency, familial hypercholesterolemia

Bcl-2 (4,568 words) [view diff] exact match in snippet view article find links to article

"Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy". Nature. 390 (6658): 413–417. Bibcode:1997Natur.390..413I. doi:10

List of disability rights activists (4,498 words) [view diff] exact match in snippet view article find links to article

July 2009). "Dea Birkett meets Jane Campbell, a life peer with spinal muscular atrophy | Society". The Guardian. London. Retrieved 25 February 2013. Carr

STRAP (2,082 words) [view diff] case mismatch in snippet view article find links to article

encompass Spastic Paraplegia 8, Autosomal Dominant, and Childhood Spinal Muscular Atrophy. Its involvement extends to pathways such as Signaling by TGFB

List of diseases (C) (3,657 words) [view diff] exact match in snippet view article

arteriovenous shunt Congenital articular rigidity Congenital benign spinal muscular atrophy dominant Congenital brain disorder Congenital bronchobiliary fistula

Davide Caparini (2,909 words) [view diff] exact match in snippet view article find links to article

under the insignia of Smarathon Onlus (which raises money for spinal muscular atrophy research). He has raced all the major marathons (New York, Berlin

Tolworth (5,342 words) [view diff] exact match in snippet view article find links to article

I love life: Dea Birkett meets Jane Campbell, a Life Peer with spinal muscular atrophy". The Guardian. Guardian News and Media. Retrieved 15 December

Vectorette PCR (2,655 words) [view diff] exact match in snippet view article find links to article

"Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region". Proceedings of the National Academy of Sciences

Clubfoot (5,712 words) [view diff] exact match in snippet view article find links to article

abnormalities: arthrogryposis multiplex congenita, myotonic dystrophy, spinal muscular atrophy, neural tube defects, holoprosencephaly, and hydranencephaly. Clubfoot

NcRNA therapy (5,358 words) [view diff] case mismatch in snippet view article find links to article

November 2017). "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy". The New England Journal of Medicine. 377 (18): 1723–1732. doi:10

List of neuroscientists (1,607 words) [view diff] exact match in snippet view article find links to article

Boulogne 1806–1875 France Duchenne Muscular Dystrophy, Duchenne-Aran spinal muscular atrophy, Duchenne-Erb paralysis Yves De Koninck 1964– United States Bart

List of eponymous diseases (6,572 words) [view diff] exact match in snippet view article find links to article

syndrome – Eugène Apert Aran–Duchenne disease (aka Aran–Duchenne spinal muscular atrophy) – François-Amilcar Aran, Guillaume Duchenne Arnold–Chiari malformation

Charcot–Marie–Tooth disease (4,599 words) [view diff] case mismatch in snippet view article find links to article

5 Charcot-Marie-Tooth Neuropathy X Type 1 GARS-Associated Axonal Neuropathy, Charcot-Marie-Tooth Neuropathy Type 2D, Distal Spinal Muscular Atrophy V

Hello Hor (2,335 words) [view diff] exact match in snippet view article find links to article

disabled legislative candidate Chen Chun-han, who suffers from spinal muscular atrophy. The show received public backlash, prompting Hor to apologize

Simon Stevens (8,837 words) [view diff] exact match in snippet view article find links to article

March 2021). "NHS to use world's most expensive drug to treat spinal muscular atrophy". The Guardian. Retrieved 2 April 2021. "NHS England agrees price

P53 (14,089 words) [view diff] exact match in snippet view article find links to article

survival motor neuron protein and p53 and its relationship to spinal muscular atrophy". The Journal of Biological Chemistry. 277 (4): 2852–9. doi:10

2022 Birthday Honours (16,620 words) [view diff] case mismatch in snippet view article find links to article

Chief Executive Officer, The Country Food Trust and Trustee, The Spinal Muscular Atrophy Trust. For services to Charity, particularly during Covid-19. Helen

Deaths in January 2020 (16,328 words) [view diff] exact match in snippet view article find links to article

Dutch footballer (DWS, Anderlecht, national team), progressive spinal muscular atrophy. Zsolt Richly, 78, Hungarian animator. Giovanny Romero Infante

List of polio survivors (5,647 words) [view diff] exact match in snippet view article find links to article

August 2010. Breakwell, Spike (11 March 2006). "Inside story: spinal muscular atrophy". The Times. London. Archived from the original on 24 May 2011

Spatial transcriptomics (7,251 words) [view diff] exact match in snippet view article find links to article

adaptation mechanisms and protective pathways of resistant neurons in spinal muscular atrophy". Genome Research. 30 (8): 1083–1096. doi:10.1101/gr.265017.120

2016 New Year Honours (20,812 words) [view diff] case mismatch in snippet view article find links to article

services to the community in St Leonards, Hertfordshire and to the Spinal Muscular Atrophy Trust. Ailsa Elizabeth Button – Founder, The Gemmery Mother and