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An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Muscles, 2024-03, Vol.3 (1), p.100-109

2024

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Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema

Clinical and translational allergy, 2019-02, Vol.9 (1), p.9-n/a, Article 9

2019

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Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

Annals of clinical and translational neurology, 2021-07, Vol.8 (7), p.1524-1527

2021

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Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report

Clinical case reports, 2021-07, Vol.9 (7), p.e04527-n/a

2021

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Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity

Journal of neurology, 2024-09, Vol.271 (9), p.6289-6300

2024

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Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A

Journal of neurology, 2017-07, Vol.264 (7), p.1520-1522

2017

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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

The Journal of clinical investigation, 2011-07, Vol.121 (7), p.2662-2667

2011

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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature genetics, 2024-08, Vol.56 (8), p.1644-1653

2024

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

American journal of human genetics, 2019-02, Vol.104 (2), p.203-212

2019

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Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing

European journal of medical genetics, 2023-07, Vol.66 (7), p.104774-104774, Article 104774

2023

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Aprataxin mutations are a rare cause of early onset ataxia in Germany

Journal of neurology, 2004-05, Vol.251 (5), p.591-594

2004

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Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5

Movement disorders clinical practice (Hoboken, N.J.), 2022-11, Vol.9 (8), p.1116-1119

2022

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Präimplantationsdiagnostik

Medizinische Genetik, 2014-12, Vol.26 (4), p.417-426

2014

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Präimplantationsdiagnostik: Erfahrungen aus dem PID-Zentrum Lübeck

Medizinische Genetik, 2016-12, Vol.28 (3), p.304-309

2016

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Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

JAMA neurology, 2017-07, Vol.74 (7), p.806

2017

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Two different genetic diseases in the same patient: Coincident, concomitant, or causally related?

Movement disorders, 2016-04, Vol.31 (4), p.491-492

2016

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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Human mutation, 2016-07, Vol.37 (7), p.703-709

2016

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Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia

Movement disorders clinical practice (Hoboken, N.J.), 2021-08, Vol.8 (6), p.972-976

2021

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Präimplantationsdiagnostik

Medizinische Genetik, 2016-12, Vol.28 (3), p.304-309

2016

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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles: HUMAN MUTATION

Human mutation, 2016-07, Vol.37 (7), p.703-709

2016

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Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic

Journal of neurology, 2011-07, Vol.258 (7), p.1223-1227

2011

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Microdeletion 5q14.3 and anomalies of brain development

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2124-2133

2013

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An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report

Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy

Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing

Aprataxin mutations are a rare cause of early onset ataxia in Germany

ANKRD11 variants: KBG syndrome and beyond

Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5

Präimplantationsdiagnostik

Präimplantationsdiagnostik: Erfahrungen aus dem PID-Zentrum Lübeck

Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

Two different genetic diseases in the same patient: Coincident, concomitant, or causally related?

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia

Präimplantationsdiagnostik

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles: HUMAN MUTATION

Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic

Microdeletion 5q14.3 and anomalies of brain development

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