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1
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
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Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.109-109, Article 109 [Peer Reviewed Journal]

COPYRIGHT 2015 BioMed Central Ltd. ;COPYRIGHT 2015 BioMed Central Ltd. ;Copyright BioMed Central 2015 ;Distributed under a Creative Commons Attribution 4.0 International License ;Suhr et al. 2015 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-015-0326-6 ;PMID: 26338094

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2
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.66-66 [Peer Reviewed Journal]

2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Attribution ;The Author(s) 2024 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-024-03059-3 ;PMID: 38355534

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3
Assessing rare diseases prevalence using literature quantification
Assessing rare diseases prevalence using literature quantification
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Assessing rare diseases prevalence using literature quantification

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.139-139, Article 139 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01639-7 ;PMID: 33743790

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4
New developments in the molecular treatment of ichthyosis: review of the literature
New developments in the molecular treatment of ichthyosis: review of the literature
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New developments in the molecular treatment of ichthyosis: review of the literature

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.269-269, Article 269 [Peer Reviewed Journal]

2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Attribution ;The Author(s) 2022 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-022-02430-6 ;PMID: 35840979

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5
Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey
Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey
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Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey

Orphanet journal of rare diseases, 2015-02, Vol.10 (1), p.19-19 [Peer Reviewed Journal]

COPYRIGHT 2015 BioMed Central Ltd. ;COPYRIGHT 2015 BioMed Central Ltd. ;Attribution ;Rossi-Semerano et al.; licensee BioMed Central. 2015 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-015-0228-7 ;PMID: 25758134

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6
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Disease and patient characteristics in NP-C patients: findings from an international disease registry
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Disease and patient characteristics in NP-C patients: findings from an international disease registry

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.12-12 [Peer Reviewed Journal]

COPYRIGHT 2013 BioMed Central Ltd. ;COPYRIGHT 2013 BioMed Central Ltd. ;2013 Patterson et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright ©2013 Patterson et al.; licensee BioMed Central Ltd. 2013 Patterson et al.; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-8-12 ;PMID: 23324478

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7
Recent advances in methodology for clinical trials in small populations: the InSPiRe project
Recent advances in methodology for clinical trials in small populations: the InSPiRe project
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Recent advances in methodology for clinical trials in small populations: the InSPiRe project

Orphanet journal of rare diseases, 2018-10, Vol.13 (1), p.186-186, Article 186 [Peer Reviewed Journal]

COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2018 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0919-y ;PMID: 30359266

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8
Experimental designs for small randomised clinical trials: an algorithm for choice
Experimental designs for small randomised clinical trials: an algorithm for choice
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Experimental designs for small randomised clinical trials: an algorithm for choice

Orphanet journal of rare diseases, 2013-03, Vol.8 (1), p.48-48 [Peer Reviewed Journal]

COPYRIGHT 2013 BioMed Central Ltd. ;COPYRIGHT 2013 BioMed Central Ltd. ;2013 Cornu et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2013 Cornu et al.; licensee BioMed Central Ltd. 2013 Cornu et al.; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-8-48 ;PMID: 23531234

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9
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.1-345, Article 345 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Attribution ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-021-01957-4 ;PMID: 34348744

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10
Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov
Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov
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Does the low prevalence affect the sample size of interventional clinical trials of rare diseases? An analysis of data from the aggregate analysis of clinicaltrials.gov

Orphanet journal of rare diseases, 2017-03, Vol.12 (1), p.44-44, Article 44 [Peer Reviewed Journal]

COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s). 2017 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-017-0597-1 ;PMID: 28253932

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11
Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method
Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method
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Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-317, Article 317 [Peer Reviewed Journal]

COPYRIGHT 2022 BioMed Central Ltd. ;2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2022 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-022-02467-7 ;PMID: 35987771

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12
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.168-168, Article 168 [Peer Reviewed Journal]

COPYRIGHT 2014 BioMed Central Ltd. ;COPYRIGHT 2014 BioMed Central Ltd. ;2014 Aparisi et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. ;Attribution ;Aparisi et al.; licensee BioMed Central Ltd. 2014 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-014-0168-7 ;PMID: 25404053

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13
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.80-80 [Peer Reviewed Journal]

COPYRIGHT 2013 BioMed Central Ltd. ;COPYRIGHT 2013 BioMed Central Ltd. ;2013 Milh et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2013 Milh et al.; licensee BioMed Central Ltd. 2013 Milh et al.; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-8-80 ;PMID: 23692823

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14
RaDiCo, the French national research program on rare disease cohorts
RaDiCo, the French national research program on rare disease cohorts
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RaDiCo, the French national research program on rare disease cohorts

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-454, Article 454 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-021-02089-5 ;PMID: 34715889

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15
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.86-86, Article 86 [Peer Reviewed Journal]

COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s). 2018 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0825-3 ;PMID: 30012219

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16
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
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Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.1-469, Article 469 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-021-02099-3 ;PMID: 34736502

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17
Cognitive impairment profile in adult patients with Niemann pick type C disease
Cognitive impairment profile in adult patients with Niemann pick type C disease
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Cognitive impairment profile in adult patients with Niemann pick type C disease

Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.166-166, Article 166 [Peer Reviewed Journal]

COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;Attribution ;The Author(s). 2017 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-017-0714-1 ;PMID: 29047377

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18
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
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In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.484-484, Article 484 [Peer Reviewed Journal]

2021. The Author(s). ;COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-021-02125-4 ;PMID: 34794484

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19
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry
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Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.71-71, Article 71 [Peer Reviewed Journal]

COPYRIGHT 2012 BioMed Central Ltd. ;2012 Beaussant Cohen et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright ©2012 Beaussant Cohen et al; licensee BioMed Central Ltd. 2012 Beaussant Cohen et al; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-7-71 ;PMID: 23009155

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20
Effectiveness of cladribine therapy in patients with pulmonary Langerhans cell histiocytosis
Effectiveness of cladribine therapy in patients with pulmonary Langerhans cell histiocytosis
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Effectiveness of cladribine therapy in patients with pulmonary Langerhans cell histiocytosis

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.191-191, Article 191 [Peer Reviewed Journal]

COPYRIGHT 2014 BioMed Central Ltd. ;COPYRIGHT 2014 BioMed Central Ltd. ;2014 Grobost et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. ;Distributed under a Creative Commons Attribution 4.0 International License ;Grobost et al.; licensee BioMed Central Ltd. 2014 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-014-0191-8 ;PMID: 25433492

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