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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2226-2230

2022

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Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review

Genes, 2023-09, Vol.14 (9), p.1756

2023

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Genome sequencing reanalysis increases the diagnostic yield in dystonia

Parkinsonism & related disorders, 2024-07, Vol.124, p.107010, Article 107010

2024

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Genetic Testing of Movements Disorders: A Review of Clinical Utility

Tremor and other hyperkinetic movements (New York, N.Y.), 2024, Vol.14 (1), p.2-2

2024

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6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing

BMJ neurology open, 2024-08, Vol.6 (Suppl 1), p.A3-A3

2024

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3039 Monogenic Parkinson’s Disease Australia (MonoPDAus) initiative: study protocol

BMJ neurology open, 2024-08, Vol.6 (Suppl 1), p.A22-A23

2024

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Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.3139-3143

2011

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080 The diagnostic journey of mitochondrial disease patients

BMJ neurology open, 2021-08, Vol.3 (Suppl 1), p.A29-A29

2021

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Novel Clinical Features in Pontine Tegmental Cap Dysplasia

Pediatric neurology, 2012-06, Vol.46 (6), p.393-396

2012

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Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia

Pediatric cardiology, 2012-06, Vol.33 (5), p.827-830

2012

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Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4

Pediatric neurology, 2011-09, Vol.45 (3), p.185-188

2011

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2309 ACBD5-related Retinal Dystrophy with Leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency

BMJ neurology open, 2022-08, Vol.4 (Suppl 1), p.A35-A35

2022

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081 IgLON5 autoimmunity in two cases with peripheral nervous system features

BMJ neurology open, 2021-08, Vol.3 (Suppl 1), p.A29-A30

2021

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Short Stature due to 15q26 Microdeletion Involving IGFLR: Report of an Additional Case and Review of the Literature

American journal of medical genetics. Part A, 2011, Vol.155 (12), p.3139-3143

2011

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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants

American journal of medical genetics. Part A, 2022, Vol.188 (7), p.2226-2230

2022

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SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies

Movement disorders, 2024-03, Vol.39 (3), p.457-461

2024

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Reply to: Comment to “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies”

Movement disorders, 2024-06, Vol.39 (6), p.1078-1078

2024

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Reply to: Comment to “SCA4 Unravelled After More than 25Years Using Advanced Genomic Technologies”

Movement disorders, 2024-06, Vol.39 (6), p.1078-1078

2024

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SCA4 Unravelled After More than 25Years Using Advanced Genomic Technologies

Movement disorders, 2024-03, Vol.39 (3), p.457-461

2024

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Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia

Parkinsonism & related disorders, 2024-02, Vol.119, p.105969-105969, Article 105969

2024

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ACBD5‐related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.346-350

2024

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An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches

Cerebellum (London, England), 2024-10, Vol.23 (5), p.2152-2168

2024

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075 Gadolinium encephalopathy presenting as status epilepticus following intrathecal injection

BMJ neurology open, 2021-08, Vol.3 (Suppl 1), p.A27-A27

2021

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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia

Movement disorders clinical practice (Hoboken, N.J.), 2024-05, Vol.11 (5), p.582-585

2024

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Safe and correct use of peripheral intravenous devices

ANZ journal of surgery, 2013-10, Vol.83 (10), p.764-768

2013

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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants

Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review

Genome sequencing reanalysis increases the diagnostic yield in dystonia

Genetic Testing of Movements Disorders: A Review of Clinical Utility

6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing

3039 Monogenic Parkinson’s Disease Australia (MonoPDAus) initiative: study protocol

Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature

080 The diagnostic journey of mitochondrial disease patients

Novel Clinical Features in Pontine Tegmental Cap Dysplasia

Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia

Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4

2309 ACBD5-related Retinal Dystrophy with Leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency

081 IgLON5 autoimmunity in two cases with peripheral nervous system features

Short Stature due to 15q26 Microdeletion Involving IGFLR: Report of an Additional Case and Review of the Literature

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants

SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies

Reply to: Comment to “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies”

Reply to: Comment to “SCA4 Unravelled After More than 25Years Using Advanced Genomic Technologies”

SCA4 Unravelled After More than 25Years Using Advanced Genomic Technologies

Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia

ACBD5‐related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches

075 Gadolinium encephalopathy presenting as status epilepticus following intrathecal injection

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia

Safe and correct use of peripheral intravenous devices

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