A. Atalaia

发表

Sleep cycles and alpha-delta sleep in fibromyalgia syndrome.

J. Branco, A. Atalaia, T. Paiva, 1994, The Journal of rheumatology.

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)

A. Atalaia, Hanns Lochmüller, M. Guglieri, 2017, Journal of Neurology.

Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

A. Atalaia, C. Vigouroux, K. Wahbi, 2021, Journal of neuromuscular diseases.

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’

A. Atalaia, R. Horvath, M. Jennings, 2020, Journal of neuromuscular diseases.

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

K. Bushby, A. Atalaia, Victoria Hedley, 2016, Orphanet Journal of Rare Diseases.

Upper limb tremor induced by peripheral nerve injury

M. de Carvalho, A. Atalaia, J. Ferreira, 2006, Neurology.

Sleep characteristics of amyotrophic lateral sclerosis in patients with preserved diaphragmatic function

M. Carvalho, A. Atalaia, A. Pinto, 2007, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Stroke in an HIV-infected patient

F. Antunes, A. Atalaia, J. Ferrol, 1992, Journal of Neurology.

Preclinical Advances of Therapies for Laminopathies

A. Atalaia, G. Bonne, R. Ben Yaou, 2021, Journal of clinical medicine.

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Bertrand Fontaine, Carles Hernandez-Ferrer, Katja Lohmann, 2020, Orphanet Journal of Rare Diseases.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Analysis of the functional capacity outcome measures for myotonic dystrophy

A. Atalaia, H. Lochmüller, M. Kierkegaard, 2019, Annals of clinical and translational neurology.

Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study.

A. Atalaia, Hanns Lochmüller, K. Anderson, 2016, Journal of neuromuscular diseases.

Respiratory apraxia in amyotrophic lateral sclerosis

M. de Carvalho, A. Atalaia, S. Pinto, 2007, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

A. Brand, G. Iskrov, R. Stefanov, 2014, Orphanet Journal of Rare Diseases.

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Nick C Fox, T. Heskes, C. Kennard, 2019, Brain : a journal of neurology.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

R. Orrell, A. Atalaia, Hanns Lochmüller, 2017, Journal of Neurology.

Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1

P. Nopoulos, A. Atalaia, M. Farrugia, 2022, Neuromuscular Disorders.

Edinburgh Research Explorer Characteristics of 698 patients with dissociative seizures: A UK multicenter study

J. Mellers, L. Goldstein, M. Richardson, 2022 .

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

How the EUCERD Joint Action supported initiatives on Rare Diseases.

A. Atalaia, K. Bushby, Victoria Hedley, 2017, European Journal of Medical Genetics.

Sleep EEG changes in OCD: A comparison with normal controls

A. Atalaia, A. Matos-Pires, F. Arriaga, 2000, European Neuropsychopharmacology.

Evidence for central abnormality in respiratory control in primary lateral sclerosis

M. de Carvalho, A. Atalaia, A. Pinto, 2006, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.