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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Clinical genetics, 2016-01, Vol.89 (1), p.34-43

2016

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Molecular characterization of congenital myasthenic syndromes in Spain

Neuromuscular disorders : NMD, 2017-12, Vol.27 (12), p.1087-1098

2017

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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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Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Molecular syndromology, 2012-11, Vol.3 (5), p.204-214

2012

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Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Clinical genetics, 2018-02, Vol.93 (2), p.255-265

2018

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Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

European journal of neurology, 2020-12, Vol.27 (12), p.2568-2574

2020

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Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2

Clinical genetics, 2018-11, Vol.94 (5), p.467-472

2018

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Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

American journal of human genetics, 2006-12, Vol.79 (6), p.1105-1109

2006

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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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P967: Two novel HSJ1 mutations in a cohort of distal hereditary motor neuropathy patients

Clinical neurophysiology, 2014-06, Vol.125, p.S305-S305

2014

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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

Neurology, 2006-08, Vol.67 (4), p.602

2006

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The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

Clinical genetics, 2010-03, Vol.77 (3), p.302-303

2010

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Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Journal of medical genetics, 2007-06, Vol.44 (6), p.e81-e81

2007

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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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Proteasomal inhibition alters the trafficking of the neurotrophin receptor TrkA

Biochemical and biophysical research communications, 2009-09, Vol.387 (2), p.360-364

2009

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Reduced folate transport to the CNS in female Rett patients

Neurology, 2003-08, Vol.61 (4), p.506

2003

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Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

Journal of the American Society of Nephrology, 2002-09, Vol.13 (9), p.2246-2258

2002

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Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

European journal of neurology, 2007-05, Vol.14 (5), p.575-577

2007

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Transcriptional regulator PRDM12 is essential for human pain perception

Nature genetics, 2015-07, Vol.47 (7), p.803-808

2015

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Nature genetics, 2004-05, Vol.36 (5), p.449-451

2004

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G.P.9.06 Marinesco-Sjögren syndrome: Correlation of nuclear changes to mutations in BAP/SIL1

Neuromuscular disorders : NMD, 2008-10, Vol.18 (9), p.787-787

2008

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Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)

Journal of medical genetics, 2005-10, Vol.42 (10), p.e63-e63

2005

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PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Cell reports (Cambridge), 2019-03, Vol.26 (13), p.3484-3492.e4

2019

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P26 Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates

Neuromuscular disorders : NMD, 2011, Vol.21, p.S13-S14

2011

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Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

Molecular characterization of congenital myasthenic syndromes in Spain

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

Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes

Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2

Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

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

P967: Two novel HSJ1 mutations in a cohort of distal hereditary motor neuropathy patients

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

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

Proteasomal inhibition alters the trafficking of the neurotrophin receptor TrkA

Reduced folate transport to the CNS in female Rett patients

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)

Transcriptional regulator PRDM12 is essential for human pain perception

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

G.P.9.06 Marinesco-Sjögren syndrome: Correlation of nuclear changes to mutations in BAP/SIL1

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

P26 Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates

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