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Parkinsonism in people with intellectual disability

Parkinsonism & related disorders, 2024-11, Vol.128, p.107079, Article 107079

2024

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Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

BMC medicine, 2023-08, Vol.21 (1), p.298-298, Article 298

2023

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PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.354-9, Article 354

2024

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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.346-11, Article 346

2024

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Understanding relationships between autism, intelligence, and epilepsy: a cross‐disorder approach

Developmental medicine and child neurology, 2013-02, Vol.55 (2), p.146-153

2013

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Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

BMC medicine, 2023-10, Vol.21 (1), p.401-401, Article 401

2023

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A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

Frontiers in neurology, 2020-02, Vol.10, p.1369-1369

2020

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International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Journal of neurodevelopmental disorders, 2023-09, Vol.15 (1), p.32-20, Article 32

2023

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Central TSC2 missense mutations are associated with a reduced risk of infantile spasms

Epilepsy research, 2013-01, Vol.103 (1), p.83-87

2013

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The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review

Journal of neurodevelopmental disorders, 2022-02, Vol.14 (1), p.13-13, Article 13

2022

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Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)

Frontiers in psychiatry, 2022-02, Vol.13, p.834628-834628

2022

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The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

Neuroradiology, 2013-08, Vol.55 (8), p.1007-1014

2013

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Accessibility and feasibility of experience sampling methods for mental health research with people with intellectual disability: Scoping of research and stakeholder views

Journal of applied research in intellectual disabilities, 2024-03, Vol.37 (2), p.e13190-n/a

2024

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Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials

Contemporary clinical trials communications, 2023-12, Vol.36, p.101233-101233, Article 101233

2023

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Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233]

Contemporary clinical trials communications, 2024-04, Vol.38, p.101264-101264, Article 101264

2024

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Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1

Neurology, 2021-03, Vol.96 (11), p.529-540

2021

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Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review

Neurology, 2024-06, Vol.102 (11), p.e209413

2024

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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

European journal of human genetics : EJHG, 2024-04

2024

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Genotype and cognitive phenotype of patients with tuberous sclerosis complex

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.510-515

2012

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Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II

Genetics in medicine, 2024-04, Vol.26 (4), p.101071, Article 101071

2024

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Development of an ICF Core Set for adults with cerebral palsy: capturing their perspective on functioning

Developmental medicine and child neurology, 2021-07, Vol.63 (7), p.846-852

2021

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Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3167-3169

2021

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Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63456-n/a

2024

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Diffusion Tensor Imaging and Related Techniques In Tuberous Sclerosis Complex: Review and Future Directions

Future neurology, 2013-09, Vol.8 (5), p.583-597

2013

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Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

Therapeutics and clinical risk management, 2019-01, Vol.15, p.951-955

2019

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Parkinsonism in people with intellectual disability

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability

Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review

Understanding relationships between autism, intelligence, and epilepsy: a cross‐disorder approach

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Central TSC2 missense mutations are associated with a reduced risk of infantile spasms

The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review

Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)

The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines

Accessibility and feasibility of experience sampling methods for mental health research with people with intellectual disability: Scoping of research and stakeholder views

Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials

Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233]

Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1

Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

Genotype and cognitive phenotype of patients with tuberous sclerosis complex

Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II

Development of an ICF Core Set for adults with cerebral palsy: capturing their perspective on functioning

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

Diffusion Tensor Imaging and Related Techniques In Tuberous Sclerosis Complex: Review and Future Directions

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

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