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Deep structured learning for variant prioritization in Mendelian diseases

Nature communications, 2023-07, Vol.14 (1), p.4167-4167, Article 4167

2023

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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

Journal of neurology, 2023-05, Vol.270 (5), p.2576-2590

2023

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A modelling study to dissect the potential role of voltage-gated ion channels in activity-dependent conduction velocity changes as identified in small fiber neuropathy patients

Frontiers in computational neuroscience, 2023-12, Vol.17, p.1265958-1265958

2023

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Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

Neurological research and practice, 2022-07, Vol.4 (1), p.34-34, Article 34

2022

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Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

PloS one, 2017-01, Vol.12 (1), p.e0170583

2017

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Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis

Neurological research and practice, 2021-11, Vol.3 (1), p.57-57, Article 57

2021

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Carbamazepine for Chronic Muscle Pain: A Retrospective Assessment of Indications, Side Effects, and Treatment Response

Brain sciences, 2023-01, Vol.13 (1), p.123

2023

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Progressive multifocal leukoencephalopathy and immune reconstitution inflammatory syndrome in seven patients with sarcoidosis: a critical discussion of treatment and prognosis

Therapeutic advances in neurological disorders, 2021, Vol.14, p.175628642110355-17562864211035543

2021

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Hereditary motor neuropathies

Current opinion in neurology, 2020-10, Vol.33 (5), p.568

2020

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Immunoglobulins to mitigate paraneoplastic Lambert Eaton Myasthenic Syndrome under checkpoint inhibition in Merkel cell carcinoma

Neurological research and practice, 2020-12, Vol.2 (1), p.52-3, Article 52

2020

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Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies

Brain sciences, 2021-02, Vol.11 (2), p.202

2021

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Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis

Journal of neurochemistry, 2021-03, Vol.156 (6), p.802-818

2021

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Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children

Child's nervous system, 2020-10, Vol.36 (10), p.2427-2432

2020

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Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

Neurological research and practice, 2022-02, Vol.4 (1), p.5-5, Article 5

2022

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Causes, spectrum, and treatment of the diabetic neuropathy

Nervenarzt, 2020-08, Vol.91 (8), p.714-721

2020

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Deoxy-sphingolipids, oxidative stress, and vitamin C correlate with qualitative and quantitative patterns of small fiber dysfunction and degeneration

Pain (Amsterdam), 2022-09, Vol.163 (9), p.1800-1811

2022

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Reduced Gray Matter Volume and Cortical Thickness in Patients With Small-Fiber Neuropathy

The journal of pain, 2024-06, Vol.25 (6), p.104457-104457, Article 104457

2024

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New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies

Neurotherapeutics, 2021-10, Vol.18 (4), p.2425-2435

2021

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Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature

Journal of neurology, 2021-10, Vol.268 (10), p.3610-3625

2021

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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

European journal of neurology, 2022-07, Vol.29 (7), p.2156-2161

2022

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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

Brain (London, England : 1878), 2023-10, Vol.146 (10), p.4191-4199

2023

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Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia

Movement disorders, 2022-02, Vol.37 (2), p.401-404

2022

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Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2024-03, Vol.95 (3), p.201

2024

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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

Neurology, 2022-03, Vol.98 (11), p.440

2022

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Deep structured learning for variant prioritization in Mendelian diseases

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

A modelling study to dissect the potential role of voltage-gated ion channels in activity-dependent conduction velocity changes as identified in small fiber neuropathy patients

Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis

Carbamazepine for Chronic Muscle Pain: A Retrospective Assessment of Indications, Side Effects, and Treatment Response

Progressive multifocal leukoencephalopathy and immune reconstitution inflammatory syndrome in seven patients with sarcoidosis: a critical discussion of treatment and prognosis

Hereditary motor neuropathies

Immunoglobulins to mitigate paraneoplastic Lambert Eaton Myasthenic Syndrome under checkpoint inhibition in Merkel cell carcinoma

Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies

Targeting transthyretin ‐ Mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis

Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

Causes, spectrum, and treatment of the diabetic neuropathy

Deoxy-sphingolipids, oxidative stress, and vitamin C correlate with qualitative and quantitative patterns of small fiber dysfunction and degeneration

Reduced Gray Matter Volume and Cortical Thickness in Patients With Small-Fiber Neuropathy

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

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