List of works - Anna Potulska-Chromik

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

scientific article published on 02 March 2011

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

scientific article

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

scientific article

Abnormal spontaneous activity in primary myopathic disorders

scientific article published on 21 December 2016

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

scientific article

Are botulinum toxin type A preparations really the same medication? A comparison of three botulinum toxin A for variations in labelled neurological indications

scientific article published in January 2010

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

scientific article published on 01 March 2016

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

scientific article published on 6 November 2015

Carpal tunnel syndrome in children

scientific article published on 01 October 2013

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

scientific article

Clinical and neuroimaging correlation of movement disorders in multiple sclerosis: case series and review of the literature.

scientific article published on January 2014

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

scientific article published on 30 October 2014

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

article

Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation

scientific article published on 12 September 2016

Efficacy and safety of abobotulinumtoxinA liquid formulation in cervical dystonia: A randomized-controlled trial.

scientific article

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

scientific article published on 01 September 2014

Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3

Genomic instability in the PARK2 locus is associated with Parkinson's disease

scientific article

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

scientific article

Long lasting dysautonomia due to botulinum toxin B poisoning: clinical-laboratory follow up and difficulties in initial diagnosis

scientific article

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

scientific article

Scintigraphic Evaluation of Mild to Moderate Dysphagia in Motor Neuron Disease.

scientific article published on 24 February 2016

Swallowing disorders in Parkinson's disease

scientific article published on 01 August 2003

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

scientific article

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

scientific article

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

scientific article published on 3 July 2018

List of works by Anna Potulska-Chromik

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

Abnormal spontaneous activity in primary myopathic disorders

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

Are botulinum toxin type A preparations really the same medication? A comparison of three botulinum toxin A for variations in labelled neurological indications

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

Carpal tunnel syndrome in children

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

Clinical and neuroimaging correlation of movement disorders in multiple sclerosis: case series and review of the literature.

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation

Efficacy and safety of abobotulinumtoxinA liquid formulation in cervical dystonia: A randomized-controlled trial.

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3

Genomic instability in the PARK2 locus is associated with Parkinson's disease

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

Long lasting dysautonomia due to botulinum toxin B poisoning: clinical-laboratory follow up and difficulties in initial diagnosis

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

Scintigraphic Evaluation of Mild to Moderate Dysphagia in Motor Neuron Disease.

Swallowing disorders in Parkinson's disease

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.