Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies (3463469)
Hindi Alhindi (3463478)
Mohamed Almuhaizea (3463490)
Mohamed Abouelhoda (3463481)
Anas Alazami (3463484)
Ewa Goljan (3463487)
Banan Alyounes (3463454)
Dyala Jaroudi (3463475)
Abdulelah AlIssa (3463466)
Khalid Alabdulrahman (3463493)
Shazia Subhani (3463460)
Mohamed El-Kalioby (3463463)
Tariq Faquih (3463457)
Salma Wakil (3443921)
Nada Altassan (3463472)
Brian Meyer (764163)
Saeed Bohlega (38335)

Open link

Publication date

September 2016

DOI

10.6084/m9.figshare.c.3611984_d1.v1

Abstract

Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb

Extracted data

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Data Protection

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies (3463469)
Hindi Alhindi (3463478)
Mohamed Almuhaizea (3463490)
Mohamed Abouelhoda (3463481)
Anas Alazami (3463484)
Ewa Goljan (3463487)
Banan Alyounes (3463454)
Dyala Jaroudi (3463475)
Abdulelah AlIssa (3463466)
Khalid Alabdulrahman (3463493)
Shazia Subhani (3463460)
Mohamed El-Kalioby (3463463)
Tariq Faquih (3463457)
Salma Wakil (3443921)
Nada Altassan (3463472)
Brian Meyer (764163)
Saeed Bohlega (38335)

Open link

Publication date

September 2016

DOI

10.6084/m9.figshare.c.3611984_d1.v1

Abstract

Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb

Extracted data

Nasser Elhawary (5078285)
Essam Jiffri (5078288)
Samira Jambi (5078270)
Ahmad Mufti (5078267)
Anas Dannoun (5078261)
Hassan Kordi (5078273)
Asim Khogeer (5078264)
Osama Jiffri (5078279)
Abdelrahman Elhawary (5078276)
Mohammed Tayeb (5078282)

April 2018

Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX...

Additional file 2: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
Michał Korostyński (2622910)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Lists of rare (< 1%) variants in genes related with “muscle phenotype” for individual patients. (XLS...

Additional file 1: of The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang (23021)
Victor Zhang (3197349)
Shaoyuan Li (122154)
Huan Li (120482)
Yiming Sun (541218)
Jing Li (10611)
Yuling Zhu (771868)
Ruojie He (4977644)
Jinfu Lin (5632655)
Cheng Zhang (70708)

August 2018

NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inna Inashkina (841992)
Eriks Jankevics (3438554)
Janis Stavusis (3438551)
Inta Vasiljeva (3438545)
Kristine Viksne (3438563)
Ieva Micule (3438566)
Jurgis Strautmanis (3438557)
Maruta Naudina (3438548)
Loreta Cimbalistiene (3415880)
Vaidutis Kucinskas (3415886)
Astrida Krumina (3438560)
Algirdas Utkus (3415898)
Birute Burnyte (3415877)
Ausra Matuleviciene (3415874)
Baiba Lace (134607)

May 2016

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay...

Additional file 1: of Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Katherine Johnson (3587309)
Marta Bertoli (4418092)
Lauren Phillips (1442983)
Ana Töpf (5572253)
Peter Van den Bergh (4018520)
John Vissing (428273)
Nanna Witting (670306)
Shahriar Nafissi (547379)
Shirin Jamal-Omidi (5572256)
Anna Łusakowska (5572259)
Anna Kostera-Pruszczyk (5572262)
Anna Potulska-Chromik (679153)
Nicolas Deconinck (541626)
Carina Wallgren-Pettersson (5572265)
Sonja Strang-Karlsson (331276)
Jaume Colomer (334937)
Kristl Claeys (4018517)
Willem De Ridder (5572268)
Jonathan Baets (3745237)
Maja von der Hagen (702743)
Roberto Fernández-Torrón (5572271)
Miren Zulaica Ijurco (5572274)
Juan Espinal Valencia (5572277)
Andreas Hahn (275151)
Hacer Durmus (727114)
Tracey Willis (3902269)
Liwen Xu (1519084)
Elise Valkanas (5572280)
Thomas Mullen (5572283)
Monkol Lek (287026)
Daniel MacArthur (3577367)
Volker Straub (251869)

July 2018

Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...

Additional file 1: of Systematic review of quantitative imaging biomarkers for neck and shoulder musculoskeletal disorders

Judith Gold (4431610)
David Hallman (3705364)
Fredrik Hellström (453981)
Martin Björklund (3531710)
Albert Crenshaw (4431598)
Svend Mathiassen (3861424)
Mary Barbe (4431613)
Sayed Ali (4431601)

September 2017

Search terms for musculoskeletal disorders (MSDs) and imaging markers. (PDF 14 kb

Additional file 1: of Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Libby Wood (5722595)
Guillaume Bassez (115626)
Corinne Bleyenheuft (5722601)
Craig Campbell (31310)
Louise Cossette (5722607)
Aura Jimenez-Moreno (5722613)
Yi Dai (47974)
Hugh Dawkins (3999881)
Jorge Manera (5722625)
Celine Dogan (2156554)
Rasha el Sherif (5722634)
Barbara Fossati (4439215)
Caroline Graham (4164355)
James Hilbert (4860733)
Kristinia Kastreva (5722643)
En Kimura (227087)
Lawrence Korngut (575919)
Anna Kostera-Pruszczyk (5572262)
Christopher Lindberg (5722649)
Bjorn Lindvall (5722652)
Elizabeth Luebbe (5722655)
Anna Lusakowska (5722658)
Radim Mazanec (495967)
Giovani Meola (5722661)
Liannna Orlando (5722664)
Masanori Takahashi (38151)
Stojan Peric (613901)
Jack Puymirat (115623)
Vidosava Rakocevic-Stojanovic (5722667)
Miriam Rodrigues (5722670)
Richard Roxburgh (5722673)
Benedikt Schoser (198716)
Sonia Segovia (3202509)
Andriy Shatillo (5722676)
Simone Thiele (5722682)
Ivailo Tournev (5722685)
Baziel van Engelen (5722688)
Stanislav Vohanka (5722691)
Hanns LochmĂźller (4418095)

September 2018

Survey to capture details about the registry, database or mailing list. (PDF 270 kb

Additional file 1: of Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests

Bart Bartels (6318590)
Laura Habets (6318593)
Marloes Stam (3366551)
Renske Wadman (6318596)
Camiel Wijngaarde (6318599)
Marja Schoenmakers (6318602)
Tim Takken (5448689)
Erik Hulzebos (6318605)
W. Pol (6318608)
Janke Groot (6318611)

February 2019

Description of outcome measures considered for selection. Description of data: Description of studie...

Additional file 1: of Identifying musculoskeletal conditions in electronic medical records: a prevalence and validation study using the Deliver Primary Healthcare Information (DELPHI) database

Bridget Ryan (3443594)
Heather Maddocks (6328883)
Scott McKay (6664829)
Robert Petrella (3410393)
Amanda Terry (6328871)
Moira Stewart (5392784)

May 2019

Table S1. Prevalence of the Top 20 ICPC Coded Musculoskeletal Conditions (n = 2493 patients). Table ...

Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...

Additional file 1: of A pilot study on the usefulness of peripheral blood flow cytometry for the diagnosis of lower risk myelodysplastic syndromes: the “MDS thermometer”

Ana Aires (4959586)
Maria dos Anjos Teixeira (4959577)
Catarina Lau (4959574)
Cláudia Moreira (281003)
Ana Spínola (4959580)
Alexandra Mota (4959583)
Inês Freitas (4824126)
Jorge Coutinho (813325)
Margarida Lima (409636)

March 2018

Table S1. Clinical and laboratorial characteristics of the study population, at diagnosis. Periphera...

Additional file 7: of Systematic review of quantitative imaging biomarkers for neck and shoulder musculoskeletal disorders

Judith Gold (4431610)
David Hallman (3705364)
Fredrik Hellström (453981)
Martin Björklund (3531710)
Albert Crenshaw (4431598)
Svend Mathiassen (3861424)
Mary Barbe (4431613)
Sayed Ali (4431601)

September 2017

Overview with descriptive information of included studies, by anatomical region of the disorder. (DO...

Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Nasser Elhawary (5078285)
Essam Jiffri (5078288)
Samira Jambi (5078270)
Ahmad Mufti (5078267)
Anas Dannoun (5078261)
Hassan Kordi (5078273)
Asim Khogeer (5078264)
Osama Jiffri (5078279)
Abdelrahman Elhawary (5078276)
Mohammed Tayeb (5078282)

April 2018

Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX...

Additional file 2: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
Michał Korostyński (2622910)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Lists of rare (< 1%) variants in genes related with “muscle phenotype” for individual patients. (XLS...

Additional file 1: of The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang (23021)
Victor Zhang (3197349)
Shaoyuan Li (122154)
Huan Li (120482)
Yiming Sun (541218)
Jing Li (10611)
Yuling Zhu (771868)
Ruojie He (4977644)
Jinfu Lin (5632655)
Cheng Zhang (70708)

August 2018

NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inna Inashkina (841992)
Eriks Jankevics (3438554)
Janis Stavusis (3438551)
Inta Vasiljeva (3438545)
Kristine Viksne (3438563)
Ieva Micule (3438566)
Jurgis Strautmanis (3438557)
Maruta Naudina (3438548)
Loreta Cimbalistiene (3415880)
Vaidutis Kucinskas (3415886)
Astrida Krumina (3438560)
Algirdas Utkus (3415898)
Birute Burnyte (3415877)
Ausra Matuleviciene (3415874)
Baiba Lace (134607)

May 2016

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay...

Katherine Johnson (3587309)
Marta Bertoli (4418092)
Lauren Phillips (1442983)
Ana Töpf (5572253)
Peter Van den Bergh (4018520)
John Vissing (428273)
Nanna Witting (670306)
Shahriar Nafissi (547379)
Shirin Jamal-Omidi (5572256)
Anna Łusakowska (5572259)
Anna Kostera-Pruszczyk (5572262)
Anna Potulska-Chromik (679153)
Nicolas Deconinck (541626)
Carina Wallgren-Pettersson (5572265)
Sonja Strang-Karlsson (331276)
Jaume Colomer (334937)
Kristl Claeys (4018517)
Willem De Ridder (5572268)
Jonathan Baets (3745237)
Maja von der Hagen (702743)
Roberto Fernández-Torrón (5572271)
Miren Zulaica Ijurco (5572274)
Juan Espinal Valencia (5572277)
Andreas Hahn (275151)
Hacer Durmus (727114)
Tracey Willis (3902269)
Liwen Xu (1519084)
Elise Valkanas (5572280)
Thomas Mullen (5572283)
Monkol Lek (287026)
Daniel MacArthur (3577367)
Volker Straub (251869)

July 2018

Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...

Additional file 1: of Systematic review of quantitative imaging biomarkers for neck and shoulder musculoskeletal disorders

Judith Gold (4431610)
David Hallman (3705364)
Fredrik Hellström (453981)
Martin Björklund (3531710)
Albert Crenshaw (4431598)
Svend Mathiassen (3861424)
Mary Barbe (4431613)
Sayed Ali (4431601)

September 2017

Search terms for musculoskeletal disorders (MSDs) and imaging markers. (PDF 14 kb

Additional file 1: of Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Libby Wood (5722595)
Guillaume Bassez (115626)
Corinne Bleyenheuft (5722601)
Craig Campbell (31310)
Louise Cossette (5722607)
Aura Jimenez-Moreno (5722613)
Yi Dai (47974)
Hugh Dawkins (3999881)
Jorge Manera (5722625)
Celine Dogan (2156554)
Rasha el Sherif (5722634)
Barbara Fossati (4439215)
Caroline Graham (4164355)
James Hilbert (4860733)
Kristinia Kastreva (5722643)
En Kimura (227087)
Lawrence Korngut (575919)
Anna Kostera-Pruszczyk (5572262)
Christopher Lindberg (5722649)
Bjorn Lindvall (5722652)
Elizabeth Luebbe (5722655)
Anna Lusakowska (5722658)
Radim Mazanec (495967)
Giovani Meola (5722661)
Liannna Orlando (5722664)
Masanori Takahashi (38151)
Stojan Peric (613901)
Jack Puymirat (115623)
Vidosava Rakocevic-Stojanovic (5722667)
Miriam Rodrigues (5722670)
Richard Roxburgh (5722673)
Benedikt Schoser (198716)
Sonia Segovia (3202509)
Andriy Shatillo (5722676)
Simone Thiele (5722682)
Ivailo Tournev (5722685)
Baziel van Engelen (5722688)
Stanislav Vohanka (5722691)
Hanns LochmĂźller (4418095)

September 2018

Survey to capture details about the registry, database or mailing list. (PDF 270 kb

Additional file 1: of Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests

Bart Bartels (6318590)
Laura Habets (6318593)
Marloes Stam (3366551)
Renske Wadman (6318596)
Camiel Wijngaarde (6318599)
Marja Schoenmakers (6318602)
Tim Takken (5448689)
Erik Hulzebos (6318605)
W. Pol (6318608)
Janke Groot (6318611)

February 2019

Description of outcome measures considered for selection. Description of data: Description of studie...

Additional file 1: of Identifying musculoskeletal conditions in electronic medical records: a prevalence and validation study using the Deliver Primary Healthcare Information (DELPHI) database

Bridget Ryan (3443594)
Heather Maddocks (6328883)
Scott McKay (6664829)
Robert Petrella (3410393)
Amanda Terry (6328871)
Moira Stewart (5392784)

May 2019

Table S1. Prevalence of the Top 20 ICPC Coded Musculoskeletal Conditions (n = 2493 patients). Table ...

Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...

Additional file 1: of A pilot study on the usefulness of peripheral blood flow cytometry for the diagnosis of lower risk myelodysplastic syndromes: the “MDS thermometer”

Ana Aires (4959586)
Maria dos Anjos Teixeira (4959577)
Catarina Lau (4959574)
Cláudia Moreira (281003)
Ana Spínola (4959580)
Alexandra Mota (4959583)
Inês Freitas (4824126)
Jorge Coutinho (813325)
Margarida Lima (409636)

March 2018

Table S1. Clinical and laboratorial characteristics of the study population, at diagnosis. Periphera...

Additional file 7: of Systematic review of quantitative imaging biomarkers for neck and shoulder musculoskeletal disorders

Judith Gold (4431610)
David Hallman (3705364)
Fredrik Hellström (453981)
Martin Björklund (3531710)
Albert Crenshaw (4431598)
Svend Mathiassen (3861424)
Mary Barbe (4431613)
Sayed Ali (4431601)

September 2017

Overview with descriptive information of included studies, by anatomical region of the disorder. (DO...

Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Nasser Elhawary (5078285)
Essam Jiffri (5078288)
Samira Jambi (5078270)
Ahmad Mufti (5078267)
Anas Dannoun (5078261)
Hassan Kordi (5078273)
Asim Khogeer (5078264)
Osama Jiffri (5078279)
Abdelrahman Elhawary (5078276)
Mohammed Tayeb (5078282)

April 2018

Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX...

Additional file 2: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
Michał Korostyński (2622910)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Lists of rare (< 1%) variants in genes related with “muscle phenotype” for individual patients. (XLS...

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Abstract

Extracted data

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Abstract

Extracted data

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