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Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

Clinical genetics, 2014-06, Vol.85 (6), p.573-577

2014

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

Journal of the neurological sciences, 1998-07, Vol.159 (1), p.88-93

1998

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

Clinical neurophysiology, 2005-11, Vol.116 (11), p.2520-2527

2005

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Human ontogenesis. 3. Cell death in fetal muscle

Acta neuropathologica, 1991-04, Vol.81 (5), p.572-577

1991

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Congenital myopathy with tubular aggregates and tubulofilamentous IBM-type inclusions

Neuropediatrics, 2005-02, Vol.36 (1), p.35

2005

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CADASIL: new cases and new questions

Acta neuropathologica, 2003-12, Vol.106 (6), p.569-574

2003

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Novel c. 191C >G (p. Pro64Arg ) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

Clinical genetics, 2014-06, Vol.85 (6), p.573-577

2014

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In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

Journal of medical genetics, 2005-08, Vol.42 (8), p.639-647

2005

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

European journal of neurology, 1997-03, Vol.4 (2), p.138-142

1997

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Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions

Neuropediatrics, 2003-02, Vol.34 (1), p.40

2003

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Correlative ultrastructural and immunohistochemical study of developing vascular basement membrane in postnatal rat spinal cord

Polish journal of pathology, 2000, Vol.51 (3), p.145

2000

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Mutations in the Sarcoglycan Genes in Patients with Myopathy

The New England journal of medicine, 1997-02, Vol.336 (9), p.618-625

1997

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Altered distribution of lamin and emerin in muscle nuclei of sIBM patients

Clinical neuropathology, 2008-11, Vol.27 (6), p.424

2008

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

Journal of the neurological sciences, 2003-06, Vol.210 (1), p.47-51

2003

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Familial inclusion body myopathy with desmin storage

Acta neuropathologica, 1999-05, Vol.97 (5), p.509-514

1999

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X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions

Clinical neuropathology, 2010-03, Vol.29 (2), p.78

2010

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Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism

Brain (London, England : 1878), 1990-04, Vol.113 (2), p.433-445

1990

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Ultrastructure of peripheral blood lymphocytes in some degenerative central nervous system disease

Folia neuropathologica, 1994, Vol.32 (2), p.81

1994

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

Neurology, 1999-03, Vol.52 (5), p.1015

1999

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Spinal muscular atrophy in childhood

Seminars in pediatric neurology, 1996-06, Vol.3 (2), p.53-58

Fidziańska, Anna

1996

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A new familial congenital myopathy in children with desmin and dystrophin reacting plaques

Journal of the neurological sciences, 1995-07, Vol.131 (1), p.88-95

1995

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

Acta myologica, 2006-06, Vol.25 (1), p.34

2006

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Motoneuron death in normal and spinal muscular atrophy-affected human fetuses

Acta neuropathologica, 2002-10, Vol.104 (4), p.363-368

2002

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“Cap disease”—a failure in the correct muscle fibre formation

Journal of the neurological sciences, 2002-09, Vol.201 (1), p.27-31

FIDZIANSKA, Anna

2002

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Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

European journal of paediatric neurology, 2008, Vol.12, p.S54-S55

2008

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Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

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

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

Human ontogenesis. 3. Cell death in fetal muscle

Congenital myopathy with tubular aggregates and tubulofilamentous IBM-type inclusions

CADASIL: new cases and new questions

Novel c. 191C >G (p. Pro64Arg ) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

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

Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions

Correlative ultrastructural and immunohistochemical study of developing vascular basement membrane in postnatal rat spinal cord

Mutations in the Sarcoglycan Genes in Patients with Myopathy

Altered distribution of lamin and emerin in muscle nuclei of sIBM patients

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

Familial inclusion body myopathy with desmin storage

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions

Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism

Ultrastructure of peripheral blood lymphocytes in some degenerative central nervous system disease

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

Spinal muscular atrophy in childhood

A new familial congenital myopathy in children with desmin and dystrophin reacting plaques

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

Motoneuron death in normal and spinal muscular atrophy-affected human fetuses

“Cap disease”—a failure in the correct muscle fibre formation

Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

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