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Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

Annals of neurology, 2005-03, Vol.57 (3), p.415-424

2005

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Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Autophagy, 2019-06, Vol.15 (6), p.1051-1068

2019

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Hereditary sensory neuropathy type I

Orphanet journal of rare diseases, 2008-03, Vol.3 (1), p.7-7, Article 7

Auer-Grumbach, Michaela

2008

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Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

American journal of human genetics, 2013-06, Vol.92 (6), p.965-973

2013

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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Brain (London, England : 1878), 2015-02, Vol.138 (Pt 2), p.293-310

2015

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MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

Annals of neurology, 2016-03, Vol.79 (3), p.419-427

2016

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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

American journal of human genetics, 2010-10, Vol.87 (4), p.513-522

2010

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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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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Molecular neurobiology, 2017-11, Vol.54 (9), p.7212-7223

2017

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

American journal of human genetics, 2011-01, Vol.88 (1), p.99-105

2011

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DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

American journal of human genetics, 2004-06, Vol.74 (6), p.1128-1135

2004

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Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

Neurobiology of disease, 2014-05, Vol.65, p.211-219

2014

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ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.204-204, Article 204

2021

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809

2010

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Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2016-09, Vol.171B (6), p.875-878

2016

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Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

American journal of human genetics, 2003-03, Vol.72 (3), p.722-727

2003

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Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

Human mutation, 2011-06, Vol.32 (6), p.E2211-E2225

2011

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A Role for Rab7 in the Movement of Secretory Granules in Cytotoxic T Lymphocytes

Traffic (Copenhagen, Denmark), 2011-07, Vol.12 (7), p.902-911

2011

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Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

Journal of the peripheral nervous system, 2015-03, Vol.20 (1), p.52-59

2015

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Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Hereditary sensory neuropathy type I

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

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

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

A Role for Rab7 in the Movement of Secretory Granules in Cytotoxic T Lymphocytes

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

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