Anja Schirmacher

Muenster, NW, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Journal: Journal of neurogenetics

Published: July 08, 2024

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.

Journal: Frontiers in genetics

Published: April 23, 2024

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

Journal: Neurology

Published: November 15, 2019

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Journal: Human genetics

Published: August 09, 2018

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.

Journal: Neuromolecular medicine

Published: July 31, 2018

Specific T-cell activation in peripheral blood and cerebrospinal fluid in central disorders of hypersomnolence.

Specific T-cell activation in peripheral blood and cerebrospinal fluid in central disorders of hypersomnolence.

Journal: Sleep

Published: July 18, 2018

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Journal: Journal of neurochemistry

Published: May 07, 2017

Not Only Sleepwalking But NREM Parasomnia Irrespective of the Type Is Associated with HLA DQB1*05:01.

Not Only Sleepwalking But NREM Parasomnia Irrespective of the Type Is Associated with HLA DQB1*05:01.

Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Published: April 21, 2015

Behr syndrome with homozygous C19ORF12 mutation.

Behr syndrome with homozygous C19ORF12 mutation.

Journal: Journal of the neurological sciences

Published: March 31, 2015

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

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

Journal: Neurology

Published: October 03, 2014

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Journal: Orphanet journal of rare diseases

Published: February 18, 2014

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.

Journal: Neuromuscular disorders : NMD

Published: March 25, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026