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Lista de obras de Irena Hausmanowa-Petrusewicz

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

artículo científico publicado en 2003

A case of Duchenne type of progessive muscular dystrophy verified by postmortem examination

artículo científico

A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients

artículo científico publicado en 1997

A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype

scientific article published on 01 December 1998

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene

artículo científico publicado en 2013

A method for determination of muscle fiber diameter using single fiber potential (SFP) analysis

artículo científico publicado en 2012

A nearest neighbour decision rule for EMG detection of carriers of Duchenne muscular dystrophy

scientific article published on 01 October 1982

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

artículo científico publicado en 2011

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

artículo científico publicado en 2004

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease

artículo científico publicado en 2006

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease

scientific article published on 01 February 2001

A novel desmin R355P mutation causes cardiac and skeletal myopathy

artículo científico publicado en 2005

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

artículo científico publicado en 2004

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

scientific article published on 11 March 2008

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

artículo científico publicado en 2014

Abnormal nerve conduction velocity as a marker of immaturity in childhood muscle spinal atrophy

artículo científico publicado en 2002

Advances in basic and clinical research in laminopathies

artículo científico

Age-related change in duration of afterhyperpolarization of human motoneurones.

artículo científico publicado en 2007

Amyotrophic lateral sclerosis: a dying motor unit?

artículo científico publicado en 2013

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene

artículo científico publicado en 2004

An evaluation of the method of antidromic stimulation in human peripheral motor nerves

artículo científico

Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity

artículo científico publicado en 1998

Analysis of double discharges in amyotrophic lateral sclerosis.

artículo científico publicado en 2008

Anti-neural antibodies in serum and cerebrospinal fluid of amyotrophic lateral sclerosis (ALS) patients

artículo científico publicado en 1999

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

artículo científico publicado en 2005

Application of automatic analysis of electromyogram in clinical practice

artículo científico publicado el 1 de marzo de 1978

Application of harmonic analysis in the evaluation of electromyographic records

artículo científico

Approximation of motor unit structure from the analysis of motor unit potential

artículo científico publicado en 2008

Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD ⬇️

artículo científico publicado el 15 de junio de 2003

Are motoneurons involved in muscular dystrophy?

artículo científico publicado en 1999

Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy

artículo científico publicado en 1987

Atypical motor unit potentials in Emery-Dreifuss muscular dystrophy (EDMD)

artículo científico publicado en 2005

Autoimmunity in Concurrent Myasthenia Gravis and Pemphigus Erythematosus ⬇️

artículo científico publicado en 1968

Automatic measurement of some EMG parameters

artículo científico publicado en 1968

Automatic measurement of the distribution of the duration of motor unit potentials in the electromyographic record

artículo científico

Automatic measurements of the distribution of duration of motor unit potentials in electromyographic records

artículo científico publicado en 1969

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene

artículo científico publicado en 2005

Behavior of latency period of muscle evoked potentials in relation to the intensity of motor nerve stimulation

scientific article published on 01 November 1967

Between Prohibition and taboo: should there be limits to scientific inquisitiveness?

artículo científico publicado en 2008

Biochemical disorders in muscle diseases. 3. Processes of final combustion in the blood of family members of patients with progressive muscular dystrophy

artículo científico

Biochemical disorders in muscle diseases. II. Processes of final combustion in blood in progressive muscular dystrophy

artículo científico

Bioelectric characteristics of spinal muscular atrophy

artículo científico publicado en 1983

Blood clotting factors in cerebrospinal fluid

artículo científico publicado en 1962

CO-EXISTENCE OF PERIODIC PARALYSIS AND HYPERTHYROIDISM

artículo científico

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

scientific article published on 01 March 1999

Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up.

artículo científico publicado en 2015

Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD)

artículo científico publicado en 2014

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

artículo científico publicado en 2007

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance

artículo científico publicado en 2008

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

artículo científico publicado en 2010

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

artículo científico publicado en 2000

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

artículo científico publicado en 2006

Chronic acquired demyelinating motor neuropathy ⬇️

artículo científico publicado el 1 de julio de 1991

Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?

artículo científico publicado en 1979

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling

artículo científico publicado en 1985

Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence

artículo científico publicado en 1984

Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2008

Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2011

Clinical variability of infantile and juvenile forms of spinal muscular atrophy

artículo científico

Clinical, serologic, and immunogenetic features in polish patients with idiopathic inflammatory myopathies

artículo científico publicado en 1997

Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology

artículo científico publicado en 2004

Coexistence of scleromyositis associated with PM-Scl antibody and myasthenia

artículo científico publicado en 1995

Comparison of electromyographic pictures of various forms of circumscribed scleroderma

artículo científico publicado en 1966

Computer analysis of the EMG and clinical results

artículo científico publicado el 1 de marzo de 1983

Conduction velocity changes in peripheral nerves in the acute stage of the Guillain-Barre syndrome

artículo científico publicado el 1 de marzo de 1978

Contemporary classification of primarily muscular diseases (myopathy)

artículo científico

Contemporary views on diabetic neuropathy

artículo científico publicado en 1971

Controversies about the function of dystrophin in muscle

artículo científico publicado en 2001

Correlating motor unit morphology with bioelectrical activity - A simulation study

artículo científico publicado en 2017

Correlation between electromyographic findings and muscle biopsy in cases of neuromuscular disease ⬇️

artículo científico publicado el 1 de mayo de 1971

Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy

artículo científico publicado en 1997

Detection of dystrophin gene mutation carrier state

artículo científico publicado en 1996

Determination of maximum and minimum conduction velocity in motor nerves in peripheral neuron involvement

artículo científico publicado el 1 de marzo de 1972

Diagnostic value of satellite potentials in clinical EMG

artículo científico publicado el 1 de noviembre de 1997

Diagnostic yield of an automated method of quantitative electromyography

artículo científico publicado en 1985

Diagnostic yield of quantitative electromyography and muscle biopsy in myopathic diseases (report of 464 cases)

artículo científico publicado en 1984

Disintegration of the motor unit in post-polio syndrome. Part I. Electrophysiological findings in patients after poliomyelitis

artículo científico publicado en 1990

Disintegration of the motor unit in post-polio syndrome. Part II. Electrophysiological findings in patients with post-polio syndrome

artículo científico publicado en 1990

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

artículo científico publicado en 2011

Double discharges of motor units in neuromuscular disorders

scientific article published on 01 January 1999

Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy.

artículo científico publicado en 2017

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

artículo científico publicado en 2010

Dystrophinopathies in females

artículo científico publicado en 2000

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts

artículo científico publicado en 2001

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.

artículo científico publicado en 2001

ELECTROMYOGRAPHIC CHANGES IN DISTAL NERVES ASSOCIATED WITH PROXIMAL MUSCULAR ATROPHY

artículo científico

ELECTROMYOGRAPHIC CHANGES IN RHEUMATIC FEVER

artículo científico publicado en 1964

EMG parameters changes in the effort pattern at various load in dystrophic muscle

artículo científico publicado en 1984

EMG parameters changes in the effort pattern at various loads in diseased muscle

scientific article published on 01 March 1983

Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival

artículo científico publicado en 2002

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

artículo científico publicado en 2006

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

artículo científico publicado en 2004

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features

scientific article published on 09 April 2014

Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2005

Effectiveness of motor unit potentials classification using various parameters and indexes

artículo científico publicado en 2000

Electromyographic aspects of non-progressive myopathies

artículo científico publicado el 1 de enero de 1972

Electromyographic findings in Steinert's disease

scientific article published on 01 May 1982

Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy

artículo científico publicado en 1986

Electromyographic findings in scleroderma

artículo científico publicado en 1961

Electromyographic findings in the so-called non-progressive myopathies

artículo científico publicado en 1976

Electromyographic findings in various forms of progressive systemic sclerosis

scientific article published on 01 January 1982

Electromyography in neuro-muscular diagnostics

artículo científico

Electrophysiologic studies of ulnar nerve injuries in glass blowers

artículo científico publicado el 1 de julio de 1972

Electrophysiological findings in childhood spinal muscular atrophies

artículo científico publicado en 1988

Electrophysiological studies of peripheral nerves in children with various grades of chronic renal failure

artículo científico publicado el 22 de marzo de 1982

Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest

artículo científico publicado en 2009

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.

artículo científico publicado en 2015

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

artículo científico publicado en 1993

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene

artículo científico publicado en 1986

Evaluation of MUAP shape irregularity--a new concept of quantification.

artículo científico publicado en 1995

Evaluation of electromyographic recordings in the detection of Duchenne's dystrophy carriers

artículo científico publicado en 1977

Evaluation of the complexity of motor unit potentials in anal sphincter electromyography

artículo científico publicado en 2004

Evidence for autoimmunity to heart-specific antigens in patients with Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2006

Examination of healthy relatives of the patients with Duchenne's progressive muscular dystrophy

artículo científico

Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2003

Familial neuropathy with liability to pressure palsies. Report of a Case ⬇️

artículo científico publicado el 1 de agosto de 1981

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family

artículo científico publicado en 2010

Features of motor control in patients with proximal childhood spinal muscle atrophy (pilot study)

scientific article published on 01 September 1993

Fiber density in congenital muscle fiber type disproportion. I. Congenital myopathies

artículo científico publicado en 1990

Fiber density in congenital muscle fiber type disproportion. II. Congenital muscle hypotonia and hip dislocation

artículo científico publicado en 1991

Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

artículo científico publicado en 2003

Further Studies Concerning the Detection of Carriership in the Duchenne Type of Dystrophy ⬇️

artículo científico publicado el 1 de enero de 1971

Further studies on electromyographic findings in generalized scleroderma

scientific article published on 01 January 1966

Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy

artículo científico publicado en 1976

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

artículo científico publicado en 2000

Global and detailed features of motor unit potential in myogenic and neurogenic disorders

artículo científico publicado en 1999

Heterogeneity of the skeletal muscle in the light of present-day data

artículo científico publicado en 1973

Histogram of muscle potentials recorded automatically with the aid of the averaging computer "ANOPS"

artículo científico

Historical view on the development of knowledge about myasthenia gravis. (Introduction to a symposium)

artículo científico publicado el 1 de mayo de 1970

Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families

scientific article published on 01 April 1993

In memoriam: Prof. Georgij Stojanow Uzunow

artículo científico publicado el 1 de septiembre de 1972

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

artículo científico publicado en 2010

Infantile and juvenile spinal muscular atrophy ⬇️

artículo científico

Interaction in simultaneous motor functions

artículo científico publicado en 1959

International collaborative study of the spinal muscular atrophies. Part 1. Analysis of clinical and laboratory data

artículo científico publicado el 1 de septiembre de 1976

Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy

artículo científico publicado en 1993

Intrafamilial variability of X-linked progressive muscular dystrophy. Mild and acute form of X-linked muscular dystrophy in the same family

artículo científico publicado en 1978

Investigation on healthy individuals from families of patients with Duchenne type muscular dystrophy

artículo científico publicado en 1968

Is Kugelberg-Welander spinal muscular atrophy a fetal defect?

scientific article published on 01 September 1980

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

artículo científico publicado en 2006

Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?

artículo científico publicado en 2014

Is the normal content of sulfhydryl groups attributable to sparing from dystrophic pathology in dystrophin-deficient muscles?

artículo científico publicado en 2002

Juvenile motor neuron diseases--the sex influence in benign juvenile pseudodystrophic spinal muscular atrophy

scientific article published on 01 January 1982

Kearns-Sayre syndrome in twins: Lethal dominant mutation or acquired disease? ⬇️

artículo científico publicado el 1 de septiembre de 1988

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

artículo científico publicado en 2010

Laminopathies: a common denominator of many disorders (a new chapter of neuromyology and beyond)

artículo científico publicado en 2004

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

scientific article published on 01 September 2007

Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del.

scientific article published on September 2016

Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy

artículo científico publicado en 1995

Localization of the gene for X-linked spinal muscular atrophy

scientific article published on 01 December 1986

Looking for disease being a model of human aging.

scientific article published on October 2007

Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy

artículo científico publicado en 2015

MU firing characteristics in human dystrophic muscle

artículo científico publicado en 1993

MUSCLE DISEASES IN THE LIGHT OF MODERN STUDIES

artículo científico

Macroemg in manifesting carriers of Duchenne muscular dystrophy

artículo científico publicado en 1999

Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients

artículo científico publicado en 2009

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

artículo científico publicado el 1 de diciembre de 1992

Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

artículo científico publicado en 2005

Modeling studies on irregular motor unit potentials

artículo científico publicado en 2004

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene

artículo científico publicado en 1993

Motoneuron afterhyperpolarisation duration in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Motoneurons are altered in muscular dystrophy

scientific article published on 01 January 1999

Motor nerve conduction velocity and stimulation threshold in man

artículo científico

Motor nerve conduction velocity in anterior horn lesions

scientific article published on 01 September 1970

Motor unit potentials with satellites in dystrophinopathies

artículo científico publicado en 2013

Muscle stiffness and continuous electromyographic activity in old rats; an animal model for spasticity?

scientific article published on 01 November 1992

Mutation screening of Charcot-Marie-Tooth patients in Poland

scientific article published on 01 September 1999

Nerve conduction in the Guillain-Barré-Strohl syndrome ⬇️

artículo científico publicado el 2 de mayo de 1979

Neurological complications in boxing

artículo científico

Neurological symptoms in degenerative rheumatism (cervical spondylarthritis).

artículo científico publicado en 1958

Nonprogressive myopathies with specific structural changes

artículo científico publicado en 1973

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

scientific article published on 27 June 2016

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

scientific article published on 24 April 2014

O-5. A wide spectrum of phenotypes in recessive forms of Charcot-Marie-Tooth disorders with known and unknown etiology in Poland.

artículo científico publicado en 2009

Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.

artículo científico publicado en 2008

On chaos in classification of childhood spinal muscular atrophy

artículo científico publicado el 1 de enero de 1992

On the classification of nonsimple motor unit potentials

artículo científico publicado en 1999

On-line computer application in clinical quantitative electromyography

artículo científico publicado en 1976

Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy

scientific article published on 01 December 2011

PROTEIN, LIPOPOTEIN AND GLYCOPROTEIN FRACTIONS OF THE BLOOD SERUM IN MUSCLE DISEASES

artículo científico

Pathogenetic treatment of various hereditary extrapyramidal disorders with new drugs

artículo científico publicado el 1 de julio de 1981

Peculiarities of myasthenia gravis in patients with thymoma

artículo científico publicado el 1 de enero de 1975

Peripheral nerve conduction following recovery from Guillain-Barre syndrome

artículo científico publicado el 1 de noviembre de 1976

Phenotype and genotype correlation in childhood spinal muscular atrophy.

artículo científico publicado en 2001

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

artículo científico publicado en 2009

Polish averaging computer "ANOPS" applied for automatic recording of histograms of duration of muscle action potentials

artículo científico publicado en 1972

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

scientific article published on 12 March 2008

Progeria: a laminopathy of special interest

artículo científico publicado en 2007

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation

scientific article published on 01 November 2009

Progress in the diagnosis of myopathies

artículo científico publicado el 1 de enero de 1975

Proteins of muscle subcellular fractions in Duchenne progressive muscular dystrophy stained with "stains-all" cationic carbocyanine dye and with Coomassie Blue

artículo científico publicado en 1989

Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA

artículo científico publicado en 2006

Quantitative evaluation of the motor unit potential complexity

artículo científico publicado en 1991

Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2012

Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Role of electromyography in the diagnosis of motor neuron disorders

artículo científico publicado el 1 de enero de 1992

Role of laboratory tests in the diagnosis of muscular diseases

artículo científico

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

artículo científico publicado en 2005

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

artículo científico publicado en 1990

Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy

artículo científico publicado en 1989

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

artículo científico publicado en 2013

Shape irregularity of motor unit potentials in some neuromuscular disorders

artículo científico publicado en 1998

Silver syndrome--case report

artículo científico publicado en 2007

Simulation studies on the motor unit potentials with satellite components in amyotrophic lateral sclerosis and spinal muscle atrophy

artículo científico publicado en 2012

Somatic mosaicism in Charcot-Marie-Tooth type X disease

scientific article published on 01 January 2004

Some clinical problems in myasthenia (Case records from the Warsaw Neurologic Clinic

artículo científico publicado el 15 de abril de 1971

Some clinical problems of myasthenia gravis based on an analysis of cases at the Department of Neurology in Warsaw

artículo científico publicado el 1 de mayo de 1970

Some clinical problems of myasthenia in the light of studies on the material of the Department of Neurology, Medical Academy in Warsaw

artículo científico

Some remarks on computer-aided clinical electromyography based on experience with the Polish ANOPS minicomputer.

artículo científico publicado en 1986

Spinal muscle atrophy in the offspring of consanguineous parents

artículo científico publicado el 1 de julio de 1977

Spinal muscular atrophies: how many types?

artículo científico publicado el 1 de enero de 1991

Spinal muscular atrophy

artículo científico publicado en 1979

Spinal muscular atrophy of childhood at the edge of the centuries

artículo científico publicado en 2001

Spinal muscular atrophy: a delayed development hypothesis

artículo científico publicado en 2005

Spinal muscular atrophy: foetal-like histopathological pattern in Werdnig-Hoffmann disease ⬇️

artículo científico publicado el 1 de diciembre de 1974

Spontaneous motor unit firing in spinal muscular atrophy of childhood.

artículo científico publicado en 1987

Spontaneous volleys of bizarre high frequency potentials (b.h.f.p.) in neuro-muscular diseases. Part 1. Occurrence of spontaneous volleys of b.h.f.p. in neuro-muscular diseases.

artículo científico publicado en 1974

Spontaneous volleys of bizarre high-frequency potentials (b.h.f.p.) in neuro-muscular diseases. Part II. An analysis of the morphology of spontaneous volleys of bizarre high-frequency potentials in neuro-muscular diseases

artículo científico publicado en 1974

Statistical analysis of tremor power spectra in spinal muscular atrophy patients

artículo científico publicado en 1985

Studies of healthy relatives of patients with Duchenne muscular dystrophy ⬇️

artículo científico publicado en 1968

Sympathetic skin response in scleroderma

artículo científico publicado el 1 de diciembre de 1991

Sympathetic skin response in scleroderma, scleroderma overlap syndromes and inflammatory myopathies

artículo científico publicado en 1999

Symposium on myasthenia. Conclusion

artículo científico publicado el 1 de mayo de 1970

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

artículo científico publicado en 2016

The Emery-Dreifuss disease

artículo científico publicado en 1988

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population

artículo científico publicado en 2015

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

artículo científico publicado en 2014

The SIIR index--a non-linear combination of waveform size and irregularity parameters for classification of motor unit potentials

artículo científico publicado en 2004

The analysis of EMG findings in amyotrophic lateral sclerosis.

artículo científico publicado en 1977

The analysis of single EMG potentials by means of multivariate methods

scientific article published on 01 March 1980

The application of the nearest neighbor decision rule in the evaluation of electromyogram in spinal muscular atrophy (SMA) of childhood

artículo científico publicado en 1986

The bioelectric action of the muscles in scleroderma generalisata

artículo científico

The diagnostic yield of automatic EMG analysis in neuromuscular diseases

artículo científico publicado en 1988

The effect of cold on nerve conduction of human slow and fast nerve fibers

artículo científico publicado en 1973

The effect of insulin on msucles and subcutis in diabetic rabbits

artículo científico

The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus

artículo científico publicado en 2006

The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles

artículo científico publicado en 2005

The need for computer-aided electromyography.

artículo científico publicado en 1988

The parallel and the common k-NN rules for an analysis of electromyograms in spinal muscular atrophy of childhood

artículo científico publicado en 1992

The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.

artículo científico publicado en 2001

The subclinical facial nerve involvement in generalized neuropathies

artículo científico publicado en 1987

The value of automatic analysis for quantitative electromyography

artículo científico publicado el 1 de marzo de 1979

Theoretical basis of the current therapy of myasthenia

artículo científico

Three-year observation of a myasthenic syndrome concurrent with other autoimmune syndromes in a patient with thymoma ⬇️

artículo científico publicado en 1969

Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.

artículo científico publicado en 2015

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

artículo científico publicado en 2014

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

artículo científico publicado en 1998

Unaffected patients with a homozygous absence of the SMN1 gene

artículo científico publicado en 2008

Unusual course of nemaline myopathy

artículo científico publicado el 1 de enero de 1992

Use of electromyography in the diagnosis of muscle diseases

artículo científico

Use of elementary electromyography in the diagnosis of neuromuscular diseases

artículo científico publicado en 1967

What is really important in MUAP--is it its shape?

artículo científico publicado en 1996

X-linked adult form of spinal muscular atrophy ⬇️

artículo científico publicado el 1 de enero de 1983

[A trial of cronassial use in late postpoliomyelitis syndrome]

artículo científico publicado en 1990

[Advances in neuromyology]

artículo científico publicado en 1971

[Application of the Polish-built computer Anops for the recording of histogram of muscle action potentials' duration]

scientific article published on 01 January 1971

[Apropos of heredofamilial juvenile muscular atrophy.]

artículo científico publicado en 1962

[Bio-electrical activity of skeletal muscles in renal insufficiency with hyperpotassemia]

artículo científico publicado en 1962

[Buchthal's method for the evaluation of a motor unit.]

scientific article published on 01 March 1962

[Changes in the neural conduction in spinal muscular atrophy of the Kennedy type]

scientific article published on 01 July 1989

[Changes in the peripheral nerves in chronic renal failure]

artículo científico publicado en 1986

[Charcot-Marie-Tooth disease]

scientific article published on 01 January 1966

[Clinical-genetic studies of infantile and juvenile proximal spinal muscular atrophy]

artículo científico publicado en 1994

[Conduction bloc in peripheral nerves. Facts and hypotheses]

scientific article published on 01 March 1994

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]

scientific article published on 01 July 1993

[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy]

scientific article published on 01 November 1999

[Detection of rare mutations in the dystrophin gene]

artículo científico publicado en 2009

[Diagnostic value of the electromyography in myopathies]

artículo científico publicado en 1982

[Diagnostic yield of electrophysiological and immunological studies in inflammatory myopathies]

artículo científico publicado en 1994

[EMG in spinal atrophies]

artículo científico publicado en 1969

[Electrocardiographic changes in progressive muscular dystrophy]

scientific article published on 01 September 1965

[Electromyographic studies in circumscribed sclerema.]

artículo científico publicado en 1961

[Electromyographic studies in generalized sclerema.]

artículo científico publicado en 1961

[Electromyographic studies in lead poisoning.]

artículo científico publicado en 1962

[Electrophysiological studies in polyneuropathies. Comparison between changes in sensory and motor nerve fibers]

scientific article published on 01 March 1974

[Experience of the Warsaw Neurological Clinic in detection of muscular dystrophy gene carriers]

scientific article published on 01 January 1980

[Facilitation of the motor functions of the paretic hand]

scientific article published on 01 March 1958

[Genetic characteristics of spinal muscular atrophy]

scientific article published on 01 March 1987

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report]

scientific article published on 01 March 2004

[Hereditary hypersensitivity of the peripheral nerves to pressure]

artículo científico publicado en 1981

[Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy]

artículo científico publicado en 2002

[Interaction of symmetrical motor functions. (Further studies)]

artículo científico publicado en 1962

[MYOPATHIES.]

scientific article published on 01 September 1964

[Malignant hyperthermia]

scientific article published on 01 September 1976

[Muscular changes during the course of experimental administration of triamcinolone.]

artículo científico publicado en 1962

[Myopathy in a 19-year old girl diagnosed post mortem as glycogenosis]

artículo científico publicado en 1968

[Neuroimmunology at the turn of the century: a prologue to the 21st century]

artículo científico publicado en 2001

[Obituary: P. E. Becker (1918-2000): life and work].

artículo científico publicado en 2001

[On the nosological role of the scapulo-peroneal syndrome]

artículo científico publicado en 1962

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]

scientific article published on 01 July 2004

[Problem of anticoagulant therapy in clinical neurology]

artículo científico publicado en 1960

[Progress in heterozygote detection in muscular dystrophy]

scientific article published on 01 January 1981

[Studies on so-called insulin lipodystrophy]

scientific article published on 01 August 1966

[THE LEVEL OF POTASSIUM IN DYSTROPHIC MUSCLES]

artículo científico publicado en 1963

[The current status of studies on the prevention of Duchenne dystrophy]

scientific article published on 01 October 1987

[The phenomenon of interaction of the symmetric motor function]

scientific article published on 01 November 1957

[The present state of research of experimental demyelinization]

artículo científico publicado en 1958

[The problem of mixed forms of muscular diseases]

artículo científico publicado en 1962

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