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Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis

Journal of neurochemistry, 2021-03, Vol.156 (6), p.802-818

2021

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Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

Human mutation, 2015-10, Vol.36 (10), p.950-956

2015

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PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.e17-e17

2021

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A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle

The EMBO journal, 2022-03, Vol.41 (5), p.e108899-n/a

2022

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Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy

Stem cell research, 2024-08, Vol.78, p.103449-103449, Article 103449

2024

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A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease

Brain (London, England : 1878), 2014-11, Vol.137 (Pt 11), p.2897-2902

2014

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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Scientific reports, 2023-06, Vol.13 (1), p.9737-9737, Article 9737

2023

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

American journal of human genetics, 2011-08, Vol.89 (2), p.289-294

2011

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Schwann cell gene therapies in sight

Gene therapy, 2021-11, Vol.28 (10-11), p.618-619

Zuchner, Stephan

2021

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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Nature communications, 2019-10, Vol.10 (1), p.4790-13, Article 4790

2019

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TYROBP genetic variants in early-onset Alzheimer's disease

Neurobiology of aging, 2016-12, Vol.48, p.222.e9-222.e15

2016

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Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Nature communications, 2018-12, Vol.9 (1), p.5342-14, Article 5342

2018

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Community genetics: Genetics boosts US-Cuban links

Nature (London), 2016-11, Vol.539 (7629), p.357-357

2016

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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

American journal of human genetics, 2014-09, Vol.95 (3), p.332-339

2014

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature communications, 2024-02, Vol.15 (1), p.1758-1758, Article 1758

2024

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Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

Clinical and translational medicine, 2024-01, Vol.14 (1), p.e1504-n/a

2024

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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

American journal of human genetics, 2016-04, Vol.98 (4), p.597-614

2016

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MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Human mutation, 2016-06, Vol.37 (6), p.540-548

2016

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Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand

Journal of neuromuscular diseases, 2024-01, Vol.11 (1), p.191-199

2024

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Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

Circulation. Cardiovascular genetics, 2013-04, Vol.6 (2), p.144

2013

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P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

Genetics in Medicine Open, 2024, Vol.2, p.101352, Article 101352

2024

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O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

Genetics in Medicine Open, 2024, Vol.2, p.101018, Article 101018

2024

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Large scale in silico characterization of repeat expansion variation in human genomes

Scientific data, 2020-09, Vol.7 (1), p.294-294, Article 294

2020

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Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy

A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Schwann cell gene therapies in sight

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

TYROBP genetic variants in early-onset Alzheimer's disease

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Community genetics: Genetics boosts US-Cuban links

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy

P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

Large scale in silico characterization of repeat expansion variation in human genomes

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

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