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Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S177-S177

2016

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P594: Peripheral nerves involvement in type 1 and type 2 myotonic dystrophy

Clinical neurophysiology, 2014-06, Vol.125, p.S210-S210

2014

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P588: Are the electrophysiological tests helpful in differentiating diagnosis between myotonic dystrophies (DM1 and DM2)?

Clinical neurophysiology, 2014-06, Vol.125, p.S208-S208

2014

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P589: Characteristic EMG features in myotonic dystrophy type 2 (DM2)

Clinical neurophysiology, 2014-06, Vol.125, p.S208-S208

2014

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P.18.5 The value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 and DM2)

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.833-833

2013

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Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients

Folia morphologica, 2011-05, Vol.70 (2), p.121-129

2011

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Clinical evaluation of the effectiveness of teleneuroforma – A home rehabilitation tool for patients with Huntington's disease

Journal of the neurological sciences, 2019-10, Vol.405, p.357-358

2019

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I19Homozygosity in HD Patients - Case Reports

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A64-A64

2014

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I19 Homozygosity in HD Patients - Case Reports

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A64-A64

2014

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P.300 - Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S177-S177

2016

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Does a premutation in the ZFN9 gene result in an early onset of myotonic dystrophy type 2?

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

2008

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I14 Sleep Related Breathing Disorders In Moderate And Advanced Huntington Disease

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A62-A62

2014

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I14Sleep Related Breathing Disorders In Moderate And Advanced Huntington Disease

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A62-A62

2014

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Intravenous immunoglobulin for in-vitro fertilization failure

Human reproduction (Oxford), 1994-12, Vol.9 (12), p.2265-2269

1994

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Uterine receptivity in an oocyte donation programme

Human reproduction (Oxford), 1995-02, Vol.10 (2), p.442-445

1995

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The Comfort and Discomfort of Infertility

Journal of obstetric, gynecologic, and neonatal nursing, 1996-02, Vol.25 (2), p.167-172

1996

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F11 Self-awareness of involuntary movements and daily living disability in huntington's disease in comparison to Parkinson's disease and cervical dystonia

Journal of neurology, neurosurgery and psychiatry, 2010-09, Vol.81 (Suppl 1), p.A26-A26

2010

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Comfort Care Interventions in a Preimplantation Genetic Testing Program

Holistic nursing practice, 1998-04, Vol.12 (3), p.20-29

1998

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CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

Journal of applied genetics, 2005, Vol.46 (2), p.237-239

2005

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Immunology: Intravenous immunoglobulin for in-vitro fertilization failure

Human reproduction (Oxford), 1994-12, Vol.9 (12), p.2265-2269

1994

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Implantation: Uterine receptivity in an oocyte donation programme

Human reproduction (Oxford), 1995-02, Vol.10 (2), p.442-445

1995

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Metaphase II oocyte recovery using subcutaneous ovidrel® versus subcutaneous HCG

Fertility and sterility, 2002-09, Vol.78, p.S252-S253

2002

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Elucidating the role of the gut microbiota in the physiological effects of dietary fiber

Microbiome, 2022-05, Vol.10 (1), p.77-22, Article 77

2022

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Homogeneous Array of Nanowire-Embedded Quantum Light Emitters

Nano letters, 2013-03, Vol.13 (3), p.861-865

2013

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Correcting for Body Surface Area Identifies the True Prevalence of Abdominal Aortic Aneurysm in Screened Women

European journal of vascular and endovascular surgery, 2019-02, Vol.57 (2), p.221-228

2019

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Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

P594: Peripheral nerves involvement in type 1 and type 2 myotonic dystrophy

P588: Are the electrophysiological tests helpful in differentiating diagnosis between myotonic dystrophies (DM1 and DM2)?

P589: Characteristic EMG features in myotonic dystrophy type 2 (DM2)

P.18.5 The value of short exercise and short exercise with cooling tests in the diagnosis of myotonic dystrophies (DM1 and DM2)

Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients

Clinical evaluation of the effectiveness of teleneuroforma – A home rehabilitation tool for patients with Huntington's disease

I19Homozygosity in HD Patients - Case Reports

I19 Homozygosity in HD Patients - Case Reports

P.300 - Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

Does a premutation in the ZFN9 gene result in an early onset of myotonic dystrophy type 2?

I14 Sleep Related Breathing Disorders In Moderate And Advanced Huntington Disease

I14Sleep Related Breathing Disorders In Moderate And Advanced Huntington Disease

Intravenous immunoglobulin for in-vitro fertilization failure

Uterine receptivity in an oocyte donation programme

The Comfort and Discomfort of Infertility

F11 Self-awareness of involuntary movements and daily living disability in huntington's disease in comparison to Parkinson's disease and cervical dystonia

Comfort Care Interventions in a Preimplantation Genetic Testing Program

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group

Immunology: Intravenous immunoglobulin for in-vitro fertilization failure

Implantation: Uterine receptivity in an oocyte donation programme

Metaphase II oocyte recovery using subcutaneous ovidrel® versus subcutaneous HCG

Elucidating the role of the gut microbiota in the physiological effects of dietary fiber

Homogeneous Array of Nanowire-Embedded Quantum Light Emitters

Correcting for Body Surface Area Identifies the True Prevalence of Abdominal Aortic Aneurysm in Screened Women

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