共 7 条
[1]
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
[J].
Bosch, Annet M.
;
Stroek, Kevin
;
Abeling, Nico G.
;
Waterham, Hans R.
;
Ijlst, Lodewijk
;
Wanders, Ronald J. A.
.
ORPHANET JOURNAL OF RARE DISEASES,
2012, 7

Bosch, Annet M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands

Stroek, Kevin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands

Abeling, Nico G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands

Waterham, Hans R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands

Ijlst, Lodewijk
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands

Wanders, Ronald J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Dept Pediat, Amsterdam, Netherlands
[2]
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
[J].
Bosch, Annet M.
;
Abeling, Nico G. G. M.
;
IJlst, Lodewijk
;
Knoester, Hennie
;
van der Pol, W. Ludo
;
Stroomer, Alida E. M.
;
Wanders, Ronald J.
;
Visser, Gepke
;
Wijburg, Frits A.
;
Duran, Marinus
;
Waterham, Hans R.
.
JOURNAL OF INHERITED METABOLIC DISEASE,
2011, 34 (01)
:159-164

Bosch, Annet M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Abeling, Nico G. G. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

IJlst, Lodewijk
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Knoester, Hennie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

van der Pol, W. Ludo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Rudolf Magnus Inst Neurosci, Dept Neurol, Utrecht, Netherlands
Univ Med Ctr Utrecht, Pediat Neuromuscular Ctr Spieren Voor Spieren, Utrecht, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Stroomer, Alida E. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Wanders, Ronald J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Visser, Gepke
论文数: 0 引用数: 0
h-index: 0
机构:
Wilhelmina Childrens Hosp, Dept Metab Dis, Utrecht, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Wijburg, Frits A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Duran, Marinus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands

Waterham, Hans R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, NL-1105 AZ Amsterdam, Netherlands Univ Hosp Amsterdam, Dept Pediat, Acad Med Ctr H7 270, NL-1105 AZ Amsterdam, Netherlands
[3]
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome
[J].
De Grandis, D
;
Passadore, P
;
Chinaglia, M
;
Brazzo, F
;
Ravenni, R
;
Cudia, P
.
NEUROMUSCULAR DISORDERS,
2005, 15 (08)
:565-568

De Grandis, D
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy

Passadore, P
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy

Chinaglia, M
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy

Brazzo, F
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy

Ravenni, R
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy

Cudia, P
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy Osped Civile Rovigo, Dept Neurol, Rovigo Hosp, I-45100 Rovigo, Italy
[4]
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
[J].
Foley, A. Reghan
;
Menezes, Manoj P.
;
Pandraud, Amelie
;
Gonzalez, Michael A.
;
Al-Odaib, Ahmad
;
Abrams, Alexander J.
;
Sugano, Kumiko
;
Yonezawa, Atsushi
;
Manzur, Adnan Y.
;
Burns, Joshua
;
Hughes, Imelda
;
McCullagh, B. Gary
;
Jungbluth, Heinz
;
Lim, Ming J.
;
Lin, Jean-Pierre
;
Megarbane, Andre
;
Urtizberea, J. Andoni
;
Shah, Ayaz H.
;
Antony, Jayne
;
Webster, Richard
;
Broomfield, Alexander
;
Ng, Joanne
;
Mathew, Ann A.
;
O'Byrne, James J.
;
Forman, Eva
;
Scoto, Mariacristina
;
Prasad, Manish
;
O'Brien, Katherine
;
Olpin, Simon
;
Oppenheim, Marcus
;
Hargreaves, Iain
;
Land, John M.
;
Wang, Min X.
;
Carpenter, Kevin
;
Horvath, Rita
;
Straub, Volker
;
Lek, Monkol
;
Gold, Wendy
;
Farrell, Michael O.
;
Brandner, Sebastian
;
Phadke, Rahul
;
Matsubara, Kazuo
;
McGarvey, Michael L.
;
Scherer, Steven S.
;
Baxter, Peter S.
;
King, Mary D.
;
Clayton, Peter
;
Rahman, Shamima
;
Reilly, Mary M.
;
Ouvrier, Robert A.
.
BRAIN,
2014, 137
:44-56

Foley, A. Reghan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
UCL, Inst Child Hlth, MRC Ctr Neuromuscular Disorders, London WC1N 1EH, England
Ormond St Hosp Children, London WC1N 1EH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Menezes, Manoj P.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Pandraud, Amelie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
UCL, Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Gonzalez, Michael A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA
Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

论文数: 引用数:
h-index:
机构:

Abrams, Alexander J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA
Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Sugano, Kumiko
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ Hosp, Dept Clin Pharmacol & Therapeut, Sakyo Ku, Kyoto 6068507, Japan UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

论文数: 引用数:
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Manzur, Adnan Y.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
UCL, Inst Child Hlth, MRC Ctr Neuromuscular Disorders, London WC1N 1EH, England
Ormond St Hosp Children, London WC1N 1EH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Burns, Joshua
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Hughes, Imelda
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Manchester Childrens Hosp, Dept Paediat Neurol, Manchester M13 9WL, Lancs, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

McCullagh, B. Gary
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Manchester Childrens Hosp, Dept Paediat Neurol, Manchester M13 9WL, Lancs, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Jungbluth, Heinz
论文数: 0 引用数: 0
h-index: 0
机构:
St Thomas Hosp, Evelina Childrens Hosp, Dept Paediat Neurol, London SE1 7EH, England
Kings Coll London, Muscle Signalling Sect, Randall Div Cell & Mol Biophys, London WC2R 2LS, England
Kings Coll London, Inst Psychiat, Clin Neurosci Div, London WC2R 2LS, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Lim, Ming J.
论文数: 0 引用数: 0
h-index: 0
机构:
St Thomas Hosp, Evelina Childrens Hosp, Dept Paediat Neurol, London SE1 7EH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Lin, Jean-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
St Thomas Hosp, Evelina Childrens Hosp, Dept Paediat Neurol, London SE1 7EH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Megarbane, Andre
论文数: 0 引用数: 0
h-index: 0
机构:
Univ St Joseph, Fac Med, Unite Genet Med, Beirut 11042020, Lebanon
Univ St Joseph, Fac Med, Lab Associe INSERM UMR S 910, Beirut 11042020, Lebanon UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Urtizberea, J. Andoni
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Marin de Hendaye, AP HP, F-64700 Hendaye, France UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Shah, Ayaz H.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Aberdeen Childrens Hosp, Aberdeen AB15 6XS, Scotland UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Antony, Jayne
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Webster, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Broomfield, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Metab Med Unit, London WC1N 3JH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Ng, Joanne
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Mathew, Ann A.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

O'Byrne, James J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Univ Hosp, Dept Paediat Neurol, Dublin 2, Ireland UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Forman, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Univ Hosp, Dept Paediat Neurol, Dublin 2, Ireland UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Scoto, Mariacristina
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
UCL, Inst Child Hlth, MRC Ctr Neuromuscular Disorders, London WC1N 1EH, England
Ormond St Hosp Children, London WC1N 1EH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Prasad, Manish
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp, Dept Paediat Neurol, Sheffield S10 2TH, S Yorkshire, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

O'Brien, Katherine
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Dept Audiol, Westmead, NSW 2145, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Olpin, Simon
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp, Sheffield S10 2TH, S Yorkshire, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Oppenheim, Marcus
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
UCL, Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Hargreaves, Iain
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
UCL, Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Land, John M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
UCL, Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Wang, Min X.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Prince Alfred Hosp, Inst Clin Neurosci, Sydney, NSW 2050, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Carpenter, Kevin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
Univ Sydney, Discipline Genet Med, Sydney, NSW 2006, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Horvath, Rita
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Straub, Volker
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Lek, Monkol
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

论文数: 引用数:
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Farrell, Michael O.
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Dept Pathol, Dublin 9, Ireland UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Brandner, Sebastian
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol & Neurosurg, UCL Inst Neurol, Div Neuropathol, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Phadke, Rahul
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
UCL, Inst Child Hlth, MRC Ctr Neuromuscular Disorders, London WC1N 1EH, England
Ormond St Hosp Children, London WC1N 1EH, England
Natl Hosp Neurol & Neurosurg, UCL Inst Neurol, Div Neuropathol, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Matsubara, Kazuo
论文数: 0 引用数: 0
h-index: 0
机构:
Kyoto Univ Hosp, Dept Clin Pharmacol & Therapeut, Sakyo Ku, Kyoto 6068507, Japan UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

McGarvey, Michael L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Scherer, Steven S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Baxter, Peter S.
论文数: 0 引用数: 0
h-index: 0
机构:
Sheffield Childrens Hosp, Dept Paediat Neurol, Sheffield S10 2TH, S Yorkshire, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

King, Mary D.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Univ Hosp, Dept Paediat Neurol, Dublin 2, Ireland UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Clayton, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Rahman, Shamima
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
UCL, Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WC1N 3BG, England
Great Ormond St Hosp Sick Children, Metab Med Unit, London WC1N 3JH, England
UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Reilly, Mary M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
UCL, Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, Neurometab Unit, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

Ouvrier, Robert A.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
[5]
Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54
[J].
Green, Peter
;
Wiseman, Matthew
;
Crow, Yanick J.
;
Houlden, Henry
;
Riphagen, Shelley
;
Lin, Jean-Pierre
;
Raymond, F. Lucy
;
Childs, Anne-Marie
;
Sheridan, Eamonn
;
Edwards, Sian
;
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AMERICAN JOURNAL OF HUMAN GENETICS,
2010, 86 (03)
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Green, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Dept Med & Mol Genet, London SE1 9RT, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Wiseman, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Dept Med & Mol Genet, London SE1 9RT, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Crow, Yanick J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Manchester, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WL, Lancs, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Riphagen, Shelley
论文数: 0 引用数: 0
h-index: 0
机构:
St Thomas Hosp, Evelina Childrens Hosp, Paediat Intens Care Unit, London SE1 7EH, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Lin, Jean-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
St Thomas Hosp, Evelina Childrens Hosp, Dept Paediat Neurol, London SE1 7EH, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Raymond, F. Lucy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Childs, Anne-Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Gen Infirm, Leeds Teaching Hosp HNS, Dept Paediat Neurol, Leeds LS1 3EX, W Yorkshire, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Sheridan, Eamonn
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Genet Sect, Leeds LS9 7TF, W Yorkshire, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Edwards, Sian
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Dept Med & Mol Genet, London SE1 9RT, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England

Josifova, Dragana J.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, Dept Clin Genet, London SE1 9RT, England Guys Hosp, Dept Clin Genet, London SE1 9RT, England
[6]
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
[J].
Johnson, Janel O.
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Gibbs, J. Raphael
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Megarbane, Andre
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Urtizberea, J. Andoni
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Hernandez, Dena G.
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Foley, A. Reghan
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Arepalli, Sampath
;
Pandraud, Amelie
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Simon-Sanchez, Javier
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Clayton, Peter
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Reilly, Mary M.
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Muntoni, Francesco
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Abramzon, Yevgeniya
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Houlden, Henry
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Singleton, Andrew B.
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BRAIN,
2012, 135
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Johnson, Janel O.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England
UCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 3BG, England
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Gibbs, J. Raphael
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England
UCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 3BG, England
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Megarbane, Andre
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Urtizberea, J. Andoni
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Marin, MPR, Praticien Hosp, F-64700 Hendaye, France UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Hernandez, Dena G.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England
UCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 3BG, England
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Foley, A. Reghan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, MRC, Ctr Neuromuscular Disorders, London WC1N 1EH, England
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, England UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Arepalli, Sampath
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Pandraud, Amelie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England
UCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 3BG, England UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Simon-Sanchez, Javier
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Clayton, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, London WC1N 1EH, England
UCL, Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, England UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Reilly, Mary M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England
UCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 3BG, England UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Muntoni, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, MRC, Ctr Neuromuscular Disorders, London WC1N 1EH, England
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, England UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Abramzon, Yevgeniya
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England
UCL, Inst Neurol, Reta Lila Weston Inst Neurol Studies, London WC1N 3BG, England UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England

Singleton, Andrew B.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Inst Neurol, MRC, Dept Mol Neurosci,Ctr Neuromuscular Dis, London WC1N 3BG, England
[7]
RECOVERY FROM RESPIRATORY MUSCLE FAILURE IN A SPORADIC CASE OF BROWN-VIALETTO-VANLAERE SYNDROME WITH UNUSUALLY LATE ONSET
[J].
PICCOLO, G
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MARCHIONI, E
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MAURELLI, M
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SIMONETTI, F
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BIZZETTI, F
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SAVOLDI, F
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JOURNAL OF NEUROLOGY,
1992, 239 (06)
:355-356

PICCOLO, G
论文数: 0 引用数: 0
h-index: 0
机构: SS TRINITA HOSP,INTENS CARE UNIT,BORGOMANERO,ITALY

论文数: 引用数:
h-index:
机构:

MAURELLI, M
论文数: 0 引用数: 0
h-index: 0
机构: SS TRINITA HOSP,INTENS CARE UNIT,BORGOMANERO,ITALY

SIMONETTI, F
论文数: 0 引用数: 0
h-index: 0
机构: SS TRINITA HOSP,INTENS CARE UNIT,BORGOMANERO,ITALY

BIZZETTI, F
论文数: 0 引用数: 0
h-index: 0
机构: SS TRINITA HOSP,INTENS CARE UNIT,BORGOMANERO,ITALY

SAVOLDI, F
论文数: 0 引用数: 0
h-index: 0
机构: SS TRINITA HOSP,INTENS CARE UNIT,BORGOMANERO,ITALY