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24 Einträge gefunden

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
2023 - Forschungsinformationssystem des UKE
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
2021 - Forschungsinformationssystem des UKE
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE
Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Clinico-genetic findings in 509 frontotemporal dementia patients
2021 - Forschungsinformationssystem des UKE - frei zugänglich
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
2020 - Forschungsinformationssystem des UKE
Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family
2020 - Forschungsinformationssystem des UKE
Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase
2019 - Forschungsinformationssystem des UKE
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
2019 - Forschungsinformationssystem des UKE
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
2018 - Forschungsinformationssystem des UKE
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
2018 - Forschungsinformationssystem des UKE
Comprehensive analysis of the mutation spectrum in 301 German ALS families
2018 - Forschungsinformationssystem des UKE
Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls
2018 - Forschungsinformationssystem des UKE - frei zugänglich
Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
2017 - Forschungsinformationssystem des UKE - frei zugänglich
The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
1. Volk, Alexander E
2. Kubisch, Christian
2017 - Forschungsinformationssystem des UKE
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance
2017 - Forschungsinformationssystem des UKE
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
2017 - Forschungsinformationssystem des UKE

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A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

Clinico-genetic findings in 509 frontotemporal dementia patients

SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

Comprehensive analysis of the mutation spectrum in 301 German ALS families

Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction