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Sammi Allouni
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Decks in this class (32)
Clinical Aspects of Huntington's Disease
What are the 3 main components of...,
What is the prevalence of hunting...,
What feature may huntington disea...
23
cards
Introduction to Huntington's Disease
What kind of inheritance pattern ...,
What is the frequency of hd,
In one sentence outline what hd is
41
cards
Molecular Pathogenesis of Huntington's Disease
How is hd characterised pathologi...,
Describe cell loss in the striatu...,
Why is cell death in hd confined ...
15
cards
Molecular Diagnosis of Huntington's Disease
From whom will diagnostic hd test...,
Why must diagnostic hd for minors...,
Why wont hd referrals be accepted...
26
cards
Testing and Quality Issues in Huntington's Disease
Describe predictive presymptomati...,
Describe prenatal testing and pre...,
Describe exclusion testing
4
cards
Clinical Aspects of Myotonic Dystrophy
Describe myotonic dystrophy,
What is the prevalence of myotoni...,
What systems of the body does myo...
25
cards
Molecular Aspects of Myotonic Dystrophy Part 1
What is dm2 also known as,
What is the incidence of dm1,
Approximately what of dm is dm1
30
cards
Molecular Aspects of Myotonic Dystrophy Part 2
What challenges are associated wi...,
Why cant conventional pcr amplify...,
What is usually the first line te...
28
cards
Molecular Aspects of Myotonic Dystrophy Part 3
What are currently the main theor...,
Is dmpk transcription affected in dm,
What evidence is there to support...
15
cards
Clinical Aspects of DMD/BMD
What are the commonest forms of c...,
What is the incidence of dmd bmd,
Dmd bmd is usually cause by mutat...
17
cards
DMD/BMD - Part 1
What is one of the main clinical ...,
What is the incidence of dmd,
What is the incidence of bmd
32
cards
DMD/BMD - Part 2
What is usually the first non gen...,
What do elevated creatine kinase ...,
What are ck levels likely to be i...
17
cards
DMD/BMD - Part 3
Why is genetic testing for bmd dm...,
What software is used for dmd bmd...,
If a normal result is shown by ml...
16
cards
DMD/BMD - Part 4
Is there a cure for dmd,
Why has the development of new tr...,
What has been set up to help faci...
7
cards
Clinical Aspects of CMT
What is charcot marie tooth disea...,
What is the prevalence of cmt,
What is cmt caused by clinically
16
cards
CMT - Part 1A and 1B
Give a brief introduction to char...,
What is the prevalence of cmt,
Describe the classification of cm...
28
cards
CMT - Part 2
Describe the sequential approach ...,
What form of cmt is caused by mut...,
What form of cmt is caused by poi...
23
cards
CMT - Part 3
Describe the molecular pathogenes...,
Where is the pmp gene primarily e...,
What is the function of pmp22 pro...
8
cards
Clinical Aspects of SMA
Describe spinal muscular atrophy sma,
What is the early childhood preva...,
Sma is due to the loss of which t...
10
cards
SMA - Part 1
Describe spinal muscular atrophy sma,
Outline the clinical presentation...,
Describe the molecular genetics o...
9
cards
SMA - Part 2
Describe sma carrier testing what...,
What do we do for carrier testing...,
Have a look at bayesian risk calc...
7
cards
Mitochondrial Myopathies - Part 1
What kind of dna is the mitochond...,
Outline the differences between t...,
Describe the mitochondrial genome
16
cards
Mitochondrial Myopathies - Part 2
Describe melas syndrome,
What is the most common mutation ...,
Describe merrf syndrome
12
cards
Clinical Aspects of Mitochondrial Disorders Part One
What is heteroplasmy,
Describe the 2 main subtypes of p...,
Describe the commonest mutation t...
8
cards
Clinical Aspects of Mitochondrial Disorders Part Two
Outline the three main classifica...,
What are the 2 main subtypes of p...,
Summarise some of the common mate...
14
cards
Genetic Testing for Mitochondrial Disorders Part 1
Where is genetic diagnosis of mtd...,
Why do mtdna heteroplasmy levels ...,
Why is the sample type for geneti...
12
cards
Genetic Testing for Mitochondrial Disorders Part 2
Outline the genetic diagnosis of ...,
What test is typically utilised t...
2
cards
Introduction to Mitochondrial Disorders
Outline mitochondria function,
Overview the respiratory chain en...,
Give an overview of mitochondrial...
9
cards
Genetics of Mitochondrial Disorders
What are the three classification...,
What are the 2 main subtypes of p...,
What is the most common mtdna poi...
11
cards
Channelopathies
What are neurological ion channel...,
Outline ion channel structure,
What are the different types of i...
5
cards
New Technologies
Ngs software processing stages an...,
Ngs data analysis alternative gui...,
Alternative ngs assays
4
cards
Databases
Databases,
What does the ucsc browser do
2
cards
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Genetics of Neuromuscular Disorders
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