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Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease?

Journal of anatomy, 2014-01, Vol.224 (1), p.15-28

2014

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Pontocerebellar hypoplasia

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.173-183

2014

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The genetic counseling profession in Austria: Stakeholders’ perspectives

Journal of genetic counseling, 2021-06, Vol.30 (3), p.861-871

2021

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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.730-734

2020

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Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction

PloS one, 2020-02, Vol.15 (2), p.e0229718

2020

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Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3851-3858

2021

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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.611-618

2022

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Digital necroses and vascular thrombosis in severe spinal muscular atrophy

Muscle & nerve, 2010-07, Vol.42 (1), p.144-147

2010

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Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

Muscle & nerve, 2016-09, Vol.54 (3), p.496-500

2016

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.41-41

2013

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Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

Human mutation, 2008-05, Vol.29 (5), p.709-717

2008

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

Human molecular genetics, 2003-02, Vol.12 (3), p.349-356

2003

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Genetische Diagnostik bei ungewollt kinderlosen Paaren oder wiederholten Fehlgeburten

Gynäkologische Endokrinologie, 2023-05, Vol.21 (2), p.107-116

2023

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Genetische Diagnostik vor assistierter Reproduktion – Empfehlungen der neuen S2k-Leitlinie 2019

Gynäkologische Endokrinologie, 2020-05, Vol.18 (2), p.97-107

2020

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Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Human mutation, 2003-07, Vol.22 (1), p.74-78

2003

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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Brain (London, England : 1878), 2016-11, Vol.139 (11), p.2877-2890

2016

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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.642-649

2003

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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Brain (London, England : 1878), 2003-07, Vol.126 (7), p.1537-1544

2003

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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

American journal of human genetics, 2016-03, Vol.98 (3), p.473-489

2016

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HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum

Neurology, 2014-11, Vol.83 (19), p.1726

2014

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Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1540-1544

2010

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Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

Geburtshilfe und Frauenheilkunde, 2018-04, Vol.78 (4), p.364-381

2018

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A phenotype map for 14q32.3 terminal deletions

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.695-706

2012

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Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease?

Pontocerebellar hypoplasia

The genetic counseling profession in Austria: Stakeholders’ perspectives

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction

Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Genetische Diagnostik bei ungewollt kinderlosen Paaren oder wiederholten Fehlgeburten

Genetische Diagnostik vor assistierter Reproduktion – Empfehlungen der neuen S2k-Leitlinie 2019

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

A phenotype map for 14q32.3 terminal deletions

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