A. Łusakowska

发表

Prenatal diagnosis of congenital myopathies and muscular dystrophies

D. Massalska, J. Zimowski, J. Bijok, 2016, Clinical genetics.

Peripheral nerve involvement in myotonic dystrophy type 2 - similar or different than in myotonic dystrophy type 1?

M. Gaweł, A. Kaminska, A. Łusakowska, 2015, Neurologia i neurochirurgia polska.

Supraventricular and Ventricular Arrhythmias Are Related to the Type of Myotonic Dystrophy but Not to Disease Duration or Neurological Status

A. Kaminska, A. Łusakowska, P. Pruszczyk, 2016, Pacing and clinical electrophysiology : PACE.

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

S. Dunin-Horkawicz, A. Kaminska, V. Straub, 2019, Scientific Reports.

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

S. Tsuji, M. Morita, K. Kaida, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

V. Meininger, F. Salachas, A. Łusakowska, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Screening for late‐onset Pompe disease in Poland

A. Kaminska, A. Łusakowska, M. Lipowska, 2019, Acta neurologica Scandinavica.

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease

P. Golik, A. Kaminska, A. Łusakowska, 2015, Human Genetics.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress

K. Kyriakou, M. Prokopi, E. Kararizou, 2017, Human molecular genetics.

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

D. MacArthur, M. Lek, K. Claeys, 2018, Skeletal Muscle.

Cardiac autonomic function in type 1 and type 2 myotonic dystrophy

A. Kaminska, A. Łusakowska, P. Pruszczyk, 2017, Clinical Autonomic Research.

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

R. Płoski, K. Chrzanowska, M. Rydzanicz, 2019, Mitochondrion.

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease

P. Golik, A. Łusakowska, E. Pronicka, 2015, Human Genetics.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

D. MacArthur, M. Lek, T. Mongini, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

D. MacArthur, M. Lek, K. Claeys, 2017, Orphanet Journal of Rare Diseases.

Hypoglossal nerve palsy as an isolated syndrome of internal carotid artery dissection: A review of the literature and a case report.

M. Gaweł, P. Palczewski, A. Łusakowska, 2018, Neurologia i neurochirurgia polska.

Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

A. Łusakowska, Grzegorz Rosiak, A. Kostera-Pruszczyk, 2023, Orphanet Journal of Rare Diseases.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.